| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Macrocephaly_Megalencephaly v0.140 | MYCN | Zornitza Stark Phenotypes for gene: MYCN were changed from Neurodevelopmental disorder (MONDO:0700092), MYCN-related to Megalencephaly-polydactyly syndrome, MIM# 620748 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.139 | MYCN | Zornitza Stark reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalencephaly-polydactyly syndrome, MIM# 620748; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.139 | MAX | Zornitza Stark Phenotypes for gene: MAX were changed from Syndromic disease (MONDO:0002254), MAX-related to Polydactyly-macrocephaly syndrome, MIM# 620712 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.138 | MAX | Zornitza Stark reviewed gene: MAX: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Polydactyly-macrocephaly syndrome, MIM# 620712; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.138 | MAX | Zornitza Stark Marked gene: MAX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.138 | MAX | Zornitza Stark Gene: max has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.138 | MAX | Zornitza Stark Classified gene: MAX as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.138 | MAX | Zornitza Stark Gene: max has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.137 | MAX |
Rylee Peters gene: MAX was added gene: MAX was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAX were set to 38141607 Phenotypes for gene: MAX were set to Syndromic disease (MONDO:0002254), MAX-related Review for gene: MAX was set to AMBER Added comment: Three individuals who each share a recurrent de novo germline variant in the MAX gene, resulting in a p.Arg60Gln substitution in the loop of the b-HLH-LZ domain. Affected individuals have a complex disorder consisting primarily of macrocephaly, polydactyly, and delayed ophthalmic development. Other phenotypes reported include intellectual disability, perianal abscesses, pectus carinatum, hypospadias, renal agenesis, single umbilical artery, flattened thoracic vertebrae. Functional analysis of the p.Arg60Gln variant shows a significant increase in CCND2 protein and a more efficient heterodimerization with c-Myc resulting in an increase in transcriptional activity of c-Myc. Sources: Literature |
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| Macrocephaly_Megalencephaly v0.137 | VCP | Zornitza Stark Marked gene: VCP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.137 | VCP | Zornitza Stark Gene: vcp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.137 | VCP | Zornitza Stark Classified gene: VCP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.137 | VCP | Zornitza Stark Gene: vcp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.136 | VCP |
Manny Jacobs gene: VCP was added gene: VCP was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VCP were set to PMID: 37883978 Phenotypes for gene: VCP were set to Neurodevelopmental disorder (MONDO: 0700092) Review for gene: VCP was set to GREEN Added comment: 13 unrelated individuals with childhood onset ID/DD disorder including macrocephaly, hypotonia and dysmorphic features. Non-specific / mild MRI findings. 12 de novo - 1 inherited Sources: Literature |
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| Macrocephaly_Megalencephaly v0.136 | PAK1 | Elena Savva Classified gene: PAK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.136 | PAK1 | Elena Savva Gene: pak1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.135 | PAK1 | Elena Savva Marked gene: PAK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.135 | PAK1 | Elena Savva Gene: pak1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.135 | PAK1 |
Lauren Rogers changed review comment from: PMID 37820543: 9/10 individuals had head circumferences at least greater than the 95th percentile in individuals with severe neurodevelopmental disorder Sources: Literature; to: PMID 37820543: 9/10 individuals had head circumferences at least greater than the 95th percentile in individuals with severe neurodevelopmental disorder. All missense variants Sources: Literature |
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| Macrocephaly_Megalencephaly v0.135 | PAK1 |
Lauren Rogers gene: PAK1 was added gene: PAK1 was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAK1 were set to 37820543 Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM#618158) Review for gene: PAK1 was set to GREEN Added comment: PMID 37820543: 9/10 individuals had head circumferences at least greater than the 95th percentile in individuals with severe neurodevelopmental disorder Sources: Literature |
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| Macrocephaly_Megalencephaly v0.135 | AXIN1 | Zornitza Stark Phenotypes for gene: AXIN1 were changed from Syndromic disease, (MONDO:0002254), AXIN1-related to Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.134 | MYCN | Elena Savva Phenotypes for gene: MYCN were changed from Neurodevelopmental disorder with megalencephaly to Neurodevelopmental disorder (MONDO:0700092), MYCN-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.133 | MYCN | Elena Savva Publications for gene: MYCN were set to 30573562 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.133 | MYCN | Elena Savva Classified gene: MYCN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.133 | MYCN | Elena Savva Gene: mycn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.132 | MYCN | Naomi Baker reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:37710961; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), MYCN-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.132 | RAB5C |
Rylee Peters changed review comment from: 12 individuals with nine different heterozygous de novo variants in RAB5C. 9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe). All has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD). Sources: Literature; to: 12 individuals with nine different heterozygous de novo variants in RAB5C. 9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe). All have mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD). Sources: Literature |
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| Macrocephaly_Megalencephaly v0.132 | RAB5C | Ain Roesley Marked gene: RAB5C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.132 | RAB5C | Ain Roesley Gene: rab5c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.132 | RAB5C | Ain Roesley Classified gene: RAB5C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.132 | RAB5C | Ain Roesley Gene: rab5c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.131 | RAB5C | Ain Roesley Classified gene: RAB5C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.131 | RAB5C | Ain Roesley Gene: rab5c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.130 | RAB5C |
Rylee Peters gene: RAB5C was added gene: RAB5C was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: RAB5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAB5C were set to PMID: 37552066 Phenotypes for gene: RAB5C were set to Neurodevelopmental disorder MONDO:0700092, RAB5C-related Penetrance for gene: RAB5C were set to Complete Review for gene: RAB5C was set to GREEN gene: RAB5C was marked as current diagnostic Added comment: 12 individuals with nine different heterozygous de novo variants in RAB5C. 9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe). All has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD). Sources: Literature |
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| Macrocephaly_Megalencephaly v0.130 | AXIN1 | Elena Savva Classified gene: AXIN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.130 | AXIN1 | Elena Savva Gene: axin1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.129 | AXIN1 | Elena Savva Classified gene: AXIN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.129 | AXIN1 | Elena Savva Gene: axin1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.129 | AXIN1 | Elena Savva Classified gene: AXIN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.129 | AXIN1 | Elena Savva Gene: axin1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.128 | AXIN1 | Elena Savva Marked gene: AXIN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.128 | AXIN1 | Elena Savva Gene: axin1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.128 | AXIN1 |
Elena Savva gene: AXIN1 was added gene: AXIN1 was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: AXIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AXIN1 were set to PMID: 37582359 Phenotypes for gene: AXIN1 were set to Syndromic disease, (MONDO:0002254), AXIN1-related Review for gene: AXIN1 was set to GREEN Added comment: PMID: 37582359 - four families (7 individuals) with three homozygous truncating variants. - all variant shown to result in reduced protein, though 1/3 would be NMD predicted - Probands had macrocephaly (4/6), GDD (3/7), hip dysplasia (5/6), cardiac anomalies eg. VSD/ASD (3/7), cranial hyperostosis and vertebral endplate sclerosis Sources: Literature |
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| Macrocephaly_Megalencephaly v0.127 | GPRC5B | Ain Roesley Classified gene: GPRC5B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.127 | GPRC5B | Ain Roesley Gene: gprc5b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.126 | GPRC5B | Ain Roesley Marked gene: GPRC5B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.126 | GPRC5B | Ain Roesley Gene: gprc5b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.126 | GPRC5B | Ain Roesley Classified gene: GPRC5B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.126 | GPRC5B | Ain Roesley Gene: gprc5b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.126 | GPRC5B | Ain Roesley Classified gene: GPRC5B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.126 | GPRC5B | Ain Roesley Gene: gprc5b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.125 | GPRC5B |
Lucy Spencer gene: GPRC5B was added gene: GPRC5B was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: GPRC5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GPRC5B were set to 37143309 Phenotypes for gene: GPRC5B were set to Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447 Review for gene: GPRC5B was set to GREEN Added comment: PMID: 37143309 Cohort of 5 patients with an MRI based diagnosis of megalencephalic leukoencephalopathy with subcortical cysts (MLC). 3 unrelated patients had variants in GPRC5B, 2 have the same inframe dup Ile175dup and the third has an in frame dup of Ala177. All 3 were de novo and unaffected siblings did not have the variants. All patients have macrocephaly, delayed motor development, spasticity, ataxia and dystonia, seizures, all had varying degrees of cognitive deficits. MRI showed MLC, abnormal and swollen cerebral white matter. Patient cell lines showed reduced regulatory volume decrease, and western blot showed a strong increase in GRPC5B levels in patient lymphoblasts. Together, these findings indicate disturbed volume regulation in lymphoblasts from patients with GPRC5B variants, potentially due to increased GPRC5B levels. Transfected cells caused increased volume-regulated anion channel activity. Sources: Literature |
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| Macrocephaly_Megalencephaly v0.125 | KDM6B | Elena Savva Classified gene: KDM6B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.125 | KDM6B | Elena Savva Gene: kdm6b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.124 | KDM6B | Elena Savva Classified gene: KDM6B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.124 | KDM6B | Elena Savva Gene: kdm6b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.123 | KDM6B | Elena Savva Marked gene: KDM6B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.123 | KDM6B | Elena Savva Gene: kdm6b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.123 | KDM6B |
Elena Savva gene: KDM6B was added gene: KDM6B was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: KDM6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KDM6B were set to PMID: 37196654 Phenotypes for gene: KDM6B were set to Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities MIM#618505 Review for gene: KDM6B was set to GREEN Added comment: Rots (2023): 17/65 probands were macrocephalic Sources: Literature |
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| Macrocephaly_Megalencephaly v0.122 |
Zornitza Stark HPO terms changed from to Macrocephaly, HP:0000256; Megalencephaly, HP:0001355 List of related panels changed from to Macrocephaly; HP:0000256; Megalencephaly; HP:0001355 |
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| Macrocephaly_Megalencephaly v0.121 | ARSB |
Zornitza Stark Tag treatable tag was added to gene: ARSB. Tag clinical trial tag was added to gene: ARSB. |
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| Macrocephaly_Megalencephaly v0.121 | ATP7A | Zornitza Stark Marked gene: ATP7A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.121 | ATP7A | Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.121 | ATP7A | Zornitza Stark Phenotypes for gene: ATP7A were changed from to Menkes disease MIM#309400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.120 | ATP7A | Zornitza Stark Mode of inheritance for gene: ATP7A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.119 | ATP7A | Zornitza Stark Tag treatable tag was added to gene: ATP7A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.119 | ATP7A | Zornitza Stark reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Menkes disease MIM#309400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.119 | PPP2R5C | Zornitza Stark Phenotypes for gene: PPP2R5C were changed from macrocephaly; intellectual disability to Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092); macrocephaly; intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.118 | PPP2R5C | Zornitza Stark Publications for gene: PPP2R5C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.117 | PPP2R5C | Zornitza Stark Classified gene: PPP2R5C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.117 | PPP2R5C | Zornitza Stark Gene: ppp2r5c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.116 | PPP2R5C | Zornitza Stark reviewed gene: PPP2R5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 25972378; Phenotypes: Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.116 | Zornitza Stark removed gene:SLC30A7 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.115 | SLC30A7 |
Naomi Baker gene: SLC30A7 was added gene: SLC30A7 was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: SLC30A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC30A7 were set to PMID: 35751429 Phenotypes for gene: SLC30A7 were set to Joubert syndrome (MONDO:0018772), SLC30A7-related Review for gene: SLC30A7 was set to AMBER Added comment: PMID: 35751429: Two individuals reported with de novo variants, one missense and one delins resulting in missense. The first individual is a female with history of unilateral postaxial polydactyly, classic molar tooth sign on MRI, macrocephaly, ataxia, ocular motor apraxia, neurodevelopmental delay, and precocious puberty. The second individual had bilateral postaxial polydactyly, molar tooth sign, macrocephaly, developmental delay, and an extra oral frenulum. No functional studies reported. Sources: Literature |
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| Macrocephaly_Megalencephaly v0.115 | CTR9 | Zornitza Stark Classified gene: CTR9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.115 | CTR9 | Zornitza Stark Gene: ctr9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.114 | CTR9 |
Zornitza Stark gene: CTR9 was added gene: CTR9 was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: CTR9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CTR9 were set to 35499524; 35717577 Phenotypes for gene: CTR9 were set to Neurodevelopmental disorder (MONDO:0700092), CTR9 related; Macrocephaly Review for gene: CTR9 was set to GREEN Added comment: Additional two individuals reported who had macrocephaly in addition to ID. Sources: Literature |
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| Macrocephaly_Megalencephaly v0.113 | ZDHHC9 | Zornitza Stark Marked gene: ZDHHC9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.113 | ZDHHC9 | Zornitza Stark Gene: zdhhc9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.113 | ZDHHC9 | Zornitza Stark Phenotypes for gene: ZDHHC9 were changed from to Intellectual developmental disorder, X-linked, syndromic, Raymond type, MIM# 300799 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.112 | ZDHHC9 | Zornitza Stark Classified gene: ZDHHC9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.112 | ZDHHC9 | Zornitza Stark Gene: zdhhc9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.111 | ZDHHC9 |
Lucy Spencer gene: ZDHHC9 was added gene: ZDHHC9 was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ZDHHC9 were set to 29681091 Review for gene: ZDHHC9 was set to GREEN Added comment: Macrocephaly reported in at least 5 individuals with ZDHHC9 variants and related conditions Sources: Literature |
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| Macrocephaly_Megalencephaly v0.111 | RRAS | Zornitza Stark Marked gene: RRAS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.111 | RRAS | Zornitza Stark Gene: rras has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.111 | RRAS | Zornitza Stark Phenotypes for gene: RRAS were changed from Noonan syndrome, MONDO:0018997 to Noonan syndrome, MONDO:0018997 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.111 | RRAS | Zornitza Stark Phenotypes for gene: RRAS were changed from to Noonan syndrome, MONDO:0018997 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.110 | RRAS | Zornitza Stark Publications for gene: RRAS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.109 | RRAS | Zornitza Stark Mode of inheritance for gene: RRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.108 | RRAS | Zornitza Stark Classified gene: RRAS as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.108 | RRAS | Zornitza Stark Gene: rras has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.107 | RRAS | Belinda Chong reviewed gene: RRAS: Rating: RED; Mode of pathogenicity: None; Publications: 24705357, 32815881; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.107 | SUZ12 | Zornitza Stark Marked gene: SUZ12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.107 | SUZ12 | Zornitza Stark Gene: suz12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.107 | SUZ12 | Zornitza Stark Phenotypes for gene: SUZ12 were changed from to Imagawa-Matsumoto syndrome, MIM# 618786 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.106 | SUZ12 | Zornitza Stark Publications for gene: SUZ12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.105 | SUZ12 | Zornitza Stark Mode of inheritance for gene: SUZ12 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.104 | SUZ12 | Zornitza Stark Mode of inheritance for gene: SUZ12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.103 | SUZ12 | Zornitza Stark reviewed gene: SUZ12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31736240, 28229514; Phenotypes: Imagawa-Matsumoto syndrome, MIM# 618786; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.103 | TET3 | Zornitza Stark Marked gene: TET3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.103 | TET3 | Zornitza Stark Gene: tet3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.103 | TET3 | Zornitza Stark Classified gene: TET3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.103 | TET3 | Zornitza Stark Gene: tet3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.102 | TET3 |
Elena Savva changed review comment from: PMID: 31928709 - 11 cases in 8 families. 3/11 had true macrocephaly (>2 SD above), 1/11 had borderline and relative macrocephaly. Of the three with true macrocephaly, 1/3 had AR disease accompanied by tall stature, 2/3 had AD de novo variants. The borderline and relative macrocephaly patient was also for AD disease However 2/11 patients (siblings) had microcephaly Sources: Literature; to: PMID: 31928709 - 11 cases in 8 families. 3/11 had true macrocephaly (>2 SD above), 1/11 had borderline and relative macrocephaly. Of the three with true macrocephaly, 1/3 had AR disease accompanied by tall stature, 2/3 had AD de novo variants. The borderline and relative macrocephaly patient was also for AD disease However 2/11 patients (siblings) had microcephaly Sources: Literature |
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| Macrocephaly_Megalencephaly v0.102 | TET3 |
Elena Savva gene: TET3 was added gene: TET3 was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: TET3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: TET3 were set to PMID: 31928709 Phenotypes for gene: TET3 were set to Beck-Fahrner syndrome MIM#618798 Review for gene: TET3 was set to AMBER Added comment: PMID: 31928709 - 11 cases in 8 families. 3/11 had true macrocephaly (>2 SD above), 1/11 had borderline and relative macrocephaly. Of the three with true macrocephaly, 1/3 had AR disease accompanied by tall stature, 2/3 had AD de novo variants. The borderline and relative macrocephaly patient was also for AD disease However 2/11 patients (siblings) had microcephaly Sources: Literature |
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| Macrocephaly_Megalencephaly v0.101 | ZBTB7A | Zornitza Stark Classified gene: ZBTB7A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.101 | ZBTB7A | Zornitza Stark Gene: zbtb7a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.101 | ZBTB7A | Zornitza Stark Marked gene: ZBTB7A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.101 | ZBTB7A | Zornitza Stark Gene: zbtb7a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.101 | ZBTB7A | Zornitza Stark Classified gene: ZBTB7A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.101 | ZBTB7A | Zornitza Stark Gene: zbtb7a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.100 | ZBTB7A |
Daniel Flanagan gene: ZBTB7A was added gene: ZBTB7A was added to Macrocephaly_Megalencephaly. Sources: Expert list Mode of inheritance for gene: ZBTB7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZBTB7A were set to 34515416; 31645653 Phenotypes for gene: ZBTB7A were set to Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MIM#619769) Review for gene: ZBTB7A was set to GREEN Added comment: PMID: 34515416. Monoallelic ZBTB7A variants identified in 12 individuals from 11 families, with macrocephaly (11/12), some degree of ID (12/12), autistic features (7/12) and hypertrophy of pharyngeal lymphoid tissue (12/12). Variants included LoF variants and missense, 8 variants were de novo. PMID: 31645653. De novo ZBTB7A missense identified in a boy with macrocephaly, intellectual disability, and sleep apnea. Sources: Expert list |
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| Macrocephaly_Megalencephaly v0.100 | STT3A | Zornitza Stark Phenotypes for gene: STT3A were changed from Congenital disorder of glycosylation, type Iw MIM#615596 to Congenital disorder of glycosylation, type Iw, AR, OMIM #615596; Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.99 | STT3A | Zornitza Stark reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Iw, AR, OMIM #615596, Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.99 | WDFY3 | Zornitza Stark Marked gene: WDFY3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.99 | WDFY3 | Zornitza Stark Gene: wdfy3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.99 | WDFY3 | Zornitza Stark Classified gene: WDFY3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.99 | WDFY3 | Zornitza Stark Gene: wdfy3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.98 | WDFY3 |
Ain Roesley gene: WDFY3 was added gene: WDFY3 was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: WDFY3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WDFY3 were set to 31327001 Phenotypes for gene: WDFY3 were set to Neurodevelopmental disorder with macrocephaly Penetrance for gene: WDFY3 were set to unknown Review for gene: WDFY3 was set to AMBER gene: WDFY3 was marked as current diagnostic Added comment: De novo (And 2x inherited from similarly affected parent) variants reported in individuals described to have macrocephaly, mostly PTCs and missense not in the PH domain (where microcephaly variants are reported) . But OFC doesn't sound very macro (5/9 >97th percentile and 4/9 between 87th and 95th percentiles). Het +/- mice displayed megalencephaly Sources: Literature |
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| Macrocephaly_Megalencephaly v0.98 | ASXL2 | Zornitza Stark Marked gene: ASXL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.98 | ASXL2 | Zornitza Stark Gene: asxl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.98 | ASXL2 | Zornitza Stark Phenotypes for gene: ASXL2 were changed from to Shashi-Pena syndrome, MIM# 617190 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.97 | ASXL2 | Zornitza Stark Publications for gene: ASXL2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.96 | ASXL2 | Zornitza Stark Mode of inheritance for gene: ASXL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.95 | ASXL2 | Zornitza Stark reviewed gene: ASXL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27693232, 33751773; Phenotypes: Shashi-Pena syndrome, MIM# 617190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.95 | DICER1 | Zornitza Stark Marked gene: DICER1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.95 | DICER1 | Zornitza Stark Gene: dicer1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.95 | DICER1 | Zornitza Stark Phenotypes for gene: DICER1 were changed from GLOW syndrome, somatic mosaic - OMIM#618272; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors - OMIM#38800; Pleuropulmonary blastoma - OMIM#601200; Rhabdomyosarcoma, embryonal, 2 - #180295 to DICER1 syndrome, MONDO:0017288 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.94 | DICER1 | Zornitza Stark Classified gene: DICER1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.94 | DICER1 | Zornitza Stark Gene: dicer1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.93 | DICER1 |
Krithika Murali gene: DICER1 was added gene: DICER1 was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DICER1 were set to 27441995 Phenotypes for gene: DICER1 were set to GLOW syndrome, somatic mosaic - OMIM#618272; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors - OMIM#38800; Pleuropulmonary blastoma - OMIM#601200; Rhabdomyosarcoma, embryonal, 2 - #180295 Review for gene: DICER1 was set to GREEN Added comment: PMID 27441995 - 28 DICER1 carriers were macrocephalic (42% of the NCI natural history cohort) versus 12% family controls [statistically significant]. Association independent of height and gender. The authors note this is a subtle but important phenotypic feature which would allow for initiation of cancer surveillance earlier, as with PTEN carriers. Sources: Literature |
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| Macrocephaly_Megalencephaly v0.93 | STT3A | Zornitza Stark Marked gene: STT3A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.93 | STT3A | Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.93 | STT3A | Zornitza Stark Classified gene: STT3A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.93 | STT3A | Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.92 | STT3A |
Elena Savva gene: STT3A was added gene: STT3A was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: STT3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: STT3A were set to PMID: 34653363; 23842455; 30701557; 28424003 Phenotypes for gene: STT3A were set to Congenital disorder of glycosylation, type Iw MIM#615596 Mode of pathogenicity for gene: STT3A was set to Other Review for gene: STT3A was set to GREEN Added comment: ID/DD reported in all cases (at least 7 individuals from 3 unrelated families, with 2 different homozygous variants in STT3A) PMID: 34653363 - 16 patients from 9 families with new AD mode of inheritance (both de novo and inherited). All variants were missense within/around acritical active/catalytic sites. Patients aged 3-55yo, with children noted to be "healthy" until reaching young adulthood Clinical features include dysmorphic features, macrocephaly (6/16), mild-moderate ID/DD (10/16), short stature (8/16), skeletal abnormalities (10/16), muscle cramps (7/16). Functional studies verifies AR disease is caused by LOF variants, whereas the AD variants cause DN proven by cotransfection in WT yeast resulting in impaired glycosylation (protein levels unchanged). Sources: Literature |
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| Macrocephaly_Megalencephaly v0.92 | AKT3 | Zornitza Stark Marked gene: AKT3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.92 | AKT3 | Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.92 | AKT3 | Zornitza Stark Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.91 | AKT3 | Zornitza Stark Publications for gene: AKT3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.90 | AKT3 | Zornitza Stark Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.89 | AKT3 | Zornitza Stark reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28969385; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.89 | TAOK1 | Zornitza Stark Phenotypes for gene: TAOK1 were changed from Intellectual disability; macrocephaly to Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575; Intellectual disability; macrocephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.88 | TAOK1 | Zornitza Stark reviewed gene: TAOK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.88 | NFIB | Zornitza Stark Tag SV/CNV tag was added to gene: NFIB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.88 | NFIB | Zornitza Stark Marked gene: NFIB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.88 | NFIB | Zornitza Stark Gene: nfib has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.88 | NFIB | Zornitza Stark Phenotypes for gene: NFIB were changed from to Macrocephaly, acquired, with impaired intellectual development, MIM#618286 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.87 | NFIB | Zornitza Stark Publications for gene: NFIB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.86 | NFIB | Zornitza Stark Mode of inheritance for gene: NFIB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.85 | NFIB | Zornitza Stark reviewed gene: NFIB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30388402; Phenotypes: Macrocephaly, acquired, with impaired intellectual development, MIM#618286; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.85 | BRWD3 | Chirag Patel Classified gene: BRWD3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.85 | BRWD3 | Chirag Patel Gene: brwd3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.84 | BRWD3 |
Chirag Patel gene: BRWD3 was added gene: BRWD3 was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: BRWD3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: BRWD3 were set to PMID: 30628072, 24462886 Phenotypes for gene: BRWD3 were set to Intellectual developmental disorder, X-linked 93; OMIM # 300659 Review for gene: BRWD3 was set to GREEN Added comment: 10 patients (from 6 unrelated families) with ID, macrocephaly and dysmorphic facial features. Sources: Literature |
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| Macrocephaly_Megalencephaly v0.83 | PPP2R5D | Chirag Patel Classified gene: PPP2R5D as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.83 | PPP2R5D | Chirag Patel Gene: ppp2r5d has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.82 | PPP2R5D |
Chirag Patel gene: PPP2R5D was added gene: PPP2R5D was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: PPP2R5D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP2R5D were set to PMID: 26168268, 25972378, 25533962; 34448180 Phenotypes for gene: PPP2R5D were set to Mental retardation, autosomal dominant 35, MIM# 616355 Review for gene: PPP2R5D was set to GREEN Added comment: Phenotype of macrocephaly is consistent, and multiple patients reported Sources: Literature |
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| Macrocephaly_Megalencephaly v0.81 | PPP2R1A | Zornitza Stark Marked gene: PPP2R1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.81 | PPP2R1A | Zornitza Stark Gene: ppp2r1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.81 | PPP2R1A | Zornitza Stark Phenotypes for gene: PPP2R1A were changed from Mental retardation, autosomal dominant 36 MIM#616362 to Mental retardation, autosomal dominant 36, MIM#616362; Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.80 | PPP2R1A | Zornitza Stark Classified gene: PPP2R1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.80 | PPP2R1A | Zornitza Stark Gene: ppp2r1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.79 | PPP2R1A | Zornitza Stark reviewed gene: PPP2R1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 36, MIM#616362, Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.79 | PPP2R1A |
Elena Savva gene: PPP2R1A was added gene: PPP2R1A was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: PPP2R1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP2R1A were set to PMID: 33106617; 26168268 Phenotypes for gene: PPP2R1A were set to Mental retardation, autosomal dominant 36 MIM#616362 Mode of pathogenicity for gene: PPP2R1A was set to Other Review for gene: PPP2R1A was set to GREEN Added comment: Likely dominant negative. For some variants, binding assays using HEK293T cells transfected with either WT or mutant constructs demonstrated decreased binding to B subunit families or C subunit with corresponding decrease in PP2A activity by affecting the trimeric holoenzyme (hypothesized by authors) ((PMIDs: 26168268, 33106617). 11/29 patients were macrocephalic, conversely 7/29 patients were microcephalic. All variants were in the same region and all were missense. Sources: Literature |
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| Macrocephaly_Megalencephaly v0.79 | ATXN2L | Zornitza Stark Marked gene: ATXN2L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.79 | ATXN2L | Zornitza Stark Gene: atxn2l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.79 | ATXN2L | Sue White Classified gene: ATXN2L as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.79 | ATXN2L | Sue White Gene: atxn2l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.78 | ATXN2L |
Sue White gene: ATXN2L was added gene: ATXN2L was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: ATXN2L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATXN2L were set to 33283965; 33057194 Phenotypes for gene: ATXN2L were set to macrocephaly; intellectual disability Penetrance for gene: ATXN2L were set to unknown Review for gene: ATXN2L was set to AMBER Added comment: Combined data from three large exome groups identified several de novo variants, including frameshift and missense, in ATXN2L in patients with developmental delay (Kaplanis et al., 2020). pLI=1.0 Single case report of a novel de novo missense variant in a child with macrocephaly and developmental delay. No functional work. Sources: Literature |
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| Macrocephaly_Megalencephaly v0.77 | TRAF7 | Zornitza Stark Marked gene: TRAF7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.77 | TRAF7 | Zornitza Stark Gene: traf7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.77 | TRAF7 | Zornitza Stark Phenotypes for gene: TRAF7 were changed from to Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.76 | TRAF7 | Zornitza Stark Publications for gene: TRAF7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.75 | TRAF7 | Zornitza Stark Mode of inheritance for gene: TRAF7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.74 | TRAF7 | Zornitza Stark reviewed gene: TRAF7: Rating: GREEN; Mode of pathogenicity: None; Publications: 32376980; Phenotypes: Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.74 | TRIO | Zornitza Stark Marked gene: TRIO as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.74 | TRIO | Zornitza Stark Gene: trio has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.74 | TRIO | Zornitza Stark Mode of inheritance for gene: TRIO was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.73 | TRIO | Zornitza Stark Classified gene: TRIO as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.73 | TRIO | Zornitza Stark Gene: trio has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.72 | TRIO |
Elena Savva commented on gene: TRIO: LOF = microcephaly, GOF = macrocephaly PMID: 32109419: Missense within the GEFD1 domain have lost the ability to bind RAC1 (LOF) causing microcephaly, (with p.P1461L the exception). Missense within the 7th spectrin repeat cause increased RAC1 activation (GOF) causing macrocephaly PTCs = LOF PMID: 32109419 - 7/9 patients with global dev delay also had macrocephaly |
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| Macrocephaly_Megalencephaly v0.72 | TRIO |
Elena Savva gene: TRIO was added gene: TRIO was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: TRIO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRIO were set to PMID: 32109419; 28928363 Phenotypes for gene: TRIO were set to Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly MIM#618825 Mode of pathogenicity for gene: TRIO was set to Other Review for gene: TRIO was set to GREEN Added comment: LOF = microcephaly, GOF = macrocephaly PMID: 32109419: Missense within the GEFD1 domain have lost the ability to bind RAC1 (LOF) causing microcephaly, (with p.P1461L the exception). Missense within the 7th spectrin repeat cause increased RAC1 activation (GOF) causing macrocephaly PTCs = LOF Sources: Literature |
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| Macrocephaly_Megalencephaly v0.72 | MYCN | Zornitza Stark Marked gene: MYCN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.72 | MYCN | Zornitza Stark Gene: mycn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.72 | MYCN | Zornitza Stark Classified gene: MYCN as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.72 | MYCN | Zornitza Stark Gene: mycn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.71 | MYCN |
Kristin Rigbye gene: MYCN was added gene: MYCN was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYCN were set to 30573562 Phenotypes for gene: MYCN were set to Neurodevelopmental disorder with megalencephaly Mode of pathogenicity for gene: MYCN was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: MYCN was set to RED Added comment: Single report of a de novo missense p.T58M in an individual with a novel megalencephaly syndrome, a Japanese boy with an intellectual disability (ID), distinctive facies, megalencephaly, ventriculomegaly, hypoplastic corpus callosum, postnatal growth retardation, postaxial polydactyly and neuroblastoma. Biochemical and cell biology experiments revealed that the mutation renders MYCN resistant to proteolysis and may improperly potentiate cortical neuron proliferation. MYCN activity regulates granule neuron proliferation through induction of CCND1 and CCND2, and this syndrome was similar to CCND2 gene abnormalities that impart excessive protein stability cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. This residue is also frequently mutated in c-Myc in Burkitt’s lymphoma (also due to GoF by gene amplification), consistent with its functions in cell proliferation and differentiation. Sources: Literature |
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| Macrocephaly_Megalencephaly v0.71 | PPP2R5C | Zornitza Stark Marked gene: PPP2R5C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.71 | PPP2R5C | Zornitza Stark Gene: ppp2r5c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.71 | PPP2R5C | Sue White Classified gene: PPP2R5C as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.71 | PPP2R5C | Sue White Gene: ppp2r5c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.70 | PPP2R5C |
Sue White gene: PPP2R5C was added gene: PPP2R5C was added to Macrocephaly_Megalencephaly. Sources: Research Mode of inheritance for gene: PPP2R5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PPP2R5C were set to macrocephaly; intellectual disability Penetrance for gene: PPP2R5C were set to Complete Review for gene: PPP2R5C was set to AMBER Added comment: Emerging unpublished evidence of monoallelic missense variants causing intellectual disability and macrocephaly Sources: Research |
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| Macrocephaly_Megalencephaly v0.69 | HYAL1 | Zornitza Stark Mode of inheritance for gene: HYAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.68 | HYAL1 | Zornitza Stark edited their review of gene: HYAL1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.68 | HYAL1 | Zornitza Stark Marked gene: HYAL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.68 | HYAL1 | Zornitza Stark Gene: hyal1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.68 | HYAL1 | Zornitza Stark Phenotypes for gene: HYAL1 were changed from to Mucopolysaccharidosis type IX, MIM# 601492; MONDO:0011093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.67 | HYAL1 | Zornitza Stark Publications for gene: HYAL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.66 | HYAL1 | Zornitza Stark Classified gene: HYAL1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.66 | HYAL1 | Zornitza Stark Gene: hyal1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.65 | HYAL1 | Zornitza Stark reviewed gene: HYAL1: Rating: RED; Mode of pathogenicity: None; Publications: 10339581, 18344557, 21559944; Phenotypes: Mucopolysaccharidosis type IX, MIM# 601492, MONDO:0011093; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.65 | HGSNAT | Zornitza Stark Marked gene: HGSNAT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.65 | HGSNAT | Zornitza Stark Gene: hgsnat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.65 | HGSNAT | Zornitza Stark Phenotypes for gene: HGSNAT were changed from to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930; MONDO:0009657 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.64 | HGSNAT | Zornitza Stark Publications for gene: HGSNAT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.63 | HGSNAT | Zornitza Stark Mode of inheritance for gene: HGSNAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.62 | HGSNAT | Zornitza Stark reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 31536183; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930, MONDO:0009657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.62 | AGA | Zornitza Stark Marked gene: AGA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.62 | AGA | Zornitza Stark Gene: aga has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.62 | AGA | Zornitza Stark Phenotypes for gene: AGA were changed from to Aspartylglucosaminuria, MIM# 208400; MONDO:0008830 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.61 | AGA | Zornitza Stark Publications for gene: AGA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.60 | AGA | Zornitza Stark Mode of inheritance for gene: AGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.59 | AGA | Zornitza Stark reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 1703489, 1904874, 8064811, 8946839; Phenotypes: Aspartylglucosaminuria, MIM# 208400, MONDO:0008830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.59 | EEF2 | Zornitza Stark Marked gene: EEF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.59 | EEF2 | Zornitza Stark Gene: eef2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.59 | EEF2 | Zornitza Stark Classified gene: EEF2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.59 | EEF2 | Zornitza Stark Gene: eef2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.58 | EEF2 |
Zornitza Stark gene: EEF2 was added gene: EEF2 was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EEF2 were set to 33355653 Phenotypes for gene: EEF2 were set to Neurodevelopmental disorder; macrocephaly; hydrocephalus Review for gene: EEF2 was set to GREEN Added comment: De novo EEF2 missense variants reported in 3 unrelated children (3, 6 and 9 years of age) with a mild neurodevelopmental phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly. Sources: Literature |
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| Macrocephaly_Megalencephaly v0.57 | EZH2 | Zornitza Stark Marked gene: EZH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.57 | EZH2 | Zornitza Stark Gene: ezh2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.57 | EZH2 | Zornitza Stark Phenotypes for gene: EZH2 were changed from to Weaver syndrome MIM#277590 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.56 | EZH2 | Zornitza Stark Publications for gene: EZH2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.55 | EZH2 | Zornitza Stark Mode of inheritance for gene: EZH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.54 | EZH2 | Zornitza Stark reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29244146, 23865096; Phenotypes: Weaver syndrome MIM#277590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.54 | KPTN | Zornitza Stark Marked gene: KPTN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.54 | KPTN | Zornitza Stark Gene: kptn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.54 | KPTN | Zornitza Stark Classified gene: KPTN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.54 | KPTN | Zornitza Stark Gene: kptn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.53 | KPTN |
Zornitza Stark gene: KPTN was added gene: KPTN was added to Macrocephaly_Megalencephaly. Sources: Expert Review Mode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KPTN were set to 24239382; 32358097; 32808430 Phenotypes for gene: KPTN were set to Mental retardation, autosomal recessive 41 (MIM#615637) Review for gene: KPTN was set to GREEN Added comment: 15 patients (9 from Amish families) reported with macrocephaly and intellectual disability with hom or chet variants in KPTN (PMID: 32808430). Sources: Expert Review |
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| Macrocephaly_Megalencephaly v0.52 | SPRED1 | Zornitza Stark Marked gene: SPRED1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.52 | SPRED1 | Zornitza Stark Gene: spred1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.52 | SPRED1 | Zornitza Stark Phenotypes for gene: SPRED1 were changed from to Legius syndrome, MIM# 611431 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.51 | SPRED1 | Zornitza Stark Publications for gene: SPRED1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.50 | SPRED1 | Zornitza Stark Mode of inheritance for gene: SPRED1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.49 | SPRED1 | Zornitza Stark reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17704776, 19366998, 21548021; Phenotypes: Legius syndrome, MIM# 611431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.49 | MYT1L | Zornitza Stark Marked gene: MYT1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.49 | MYT1L | Zornitza Stark Gene: myt1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.49 | MYT1L | Zornitza Stark Phenotypes for gene: MYT1L were changed from intellectual disability; macrocephaly; epilepsy; autism to intellectual disability; macrocephaly; epilepsy; autism; Mental retardation, autosomal dominant 39, MIM# 616521 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.48 | MYT1L | Natasha Brown Classified gene: MYT1L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.48 | MYT1L | Natasha Brown Gene: myt1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.47 | MYT1L |
Natasha Brown gene: MYT1L was added gene: MYT1L was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: MYT1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYT1L were set to (PMID: 32065501) Phenotypes for gene: MYT1L were set to intellectual disability; macrocephaly; epilepsy; autism Review for gene: MYT1L was set to GREEN Added comment: Over 50 individuals reported with deletions and SNVs affecting MYT1L, and variable phenotype comprising intellectual disability, obesity, and behavioral problems. 66% in a recent cohort had seizures. 13% had macrocephaly Sources: Literature |
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| Macrocephaly_Megalencephaly v0.46 | CHD4 | Seb Lunke Marked gene: CHD4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.46 | CHD4 | Seb Lunke Gene: chd4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.46 | CHD4 | Seb Lunke Classified gene: CHD4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.46 | CHD4 | Seb Lunke Gene: chd4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.45 | CHD4 |
Ain Roesley gene: CHD4 was added gene: CHD4 was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHD4 were set to 31388190; 27616479 Phenotypes for gene: CHD4 were set to Sifrim-Hitz-Weiss syndrome (MIM#617159) Penetrance for gene: CHD4 were set to unknown Review for gene: CHD4 was set to GREEN Added comment: PMID: 31388190 Out of 32 probands, 5 had OFC of > 3 SD PMID: 27616479 Out of 5 patients, 3 had OFC of >98th percentiles and 1x 90th * all de novo variants Sources: Literature |
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| Macrocephaly_Megalencephaly v0.45 | TAOK1 | Zornitza Stark Marked gene: TAOK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.45 | TAOK1 | Zornitza Stark Gene: taok1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.45 | TAOK1 | Zornitza Stark Phenotypes for gene: TAOK1 were changed from to Intellectual disability; macrocephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.44 | TAOK1 | Zornitza Stark Publications for gene: TAOK1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.43 | TAOK1 | Zornitza Stark Mode of inheritance for gene: TAOK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.42 | TAOK1 | Sue White reviewed gene: TAOK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31230721; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.42 | CACNA1E | Zornitza Stark Marked gene: CACNA1E as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.42 | CACNA1E | Zornitza Stark Gene: cacna1e has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.42 | CACNA1E | Zornitza Stark Classified gene: CACNA1E as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.42 | CACNA1E | Zornitza Stark Gene: cacna1e has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.41 | CACNA1E |
Elena Savva gene: CACNA1E was added gene: CACNA1E was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNA1E were set to PMID:Â 30343943 Phenotypes for gene: CACNA1E were set to Epileptic encephalopathy, early infantile, 69 618285 Mode of pathogenicity for gene: CACNA1E was set to Other Review for gene: CACNA1E was set to GREEN Added comment: PMID:Â 30343943 - 30 patients with de novo variants and early-onset developmental and epileptic encephalopathy. Patients had developmental regression (9/30), severe hypotonia (16/30), seizures (26/30), congenital joint contractures (13/30), macrocephaly (13/30). MRI shows white matter loss, cortical atrophy Variants showed a GOF and LOF. Sources: Literature |
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| Macrocephaly_Megalencephaly v0.41 | A2ML1 | Zornitza Stark Marked gene: A2ML1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.41 | A2ML1 | Zornitza Stark Gene: a2ml1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.41 | A2ML1 | Zornitza Stark Phenotypes for gene: A2ML1 were changed from to Noonan syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.40 | A2ML1 | Zornitza Stark Publications for gene: A2ML1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.39 | A2ML1 | Zornitza Stark Mode of inheritance for gene: A2ML1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.38 | A2ML1 | Zornitza Stark Classified gene: A2ML1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.38 | A2ML1 | Zornitza Stark Gene: a2ml1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.37 | A2ML1 | Zornitza Stark Classified gene: A2ML1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.37 | A2ML1 | Zornitza Stark Gene: a2ml1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.37 | A2ML1 | Zornitza Stark Classified gene: A2ML1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.37 | A2ML1 | Zornitza Stark Gene: a2ml1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.36 | A2ML1 | Zornitza Stark reviewed gene: A2ML1: Rating: RED; Mode of pathogenicity: None; Publications: 24939586, 25862627; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.36 | SETD2 | Zornitza Stark Marked gene: SETD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.36 | SETD2 | Zornitza Stark Gene: setd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.36 | SETD2 | Zornitza Stark Phenotypes for gene: SETD2 were changed from to Luscan-Lumish syndrome, MIM#616831 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.35 | SETD2 | Zornitza Stark Publications for gene: SETD2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.34 | SETD2 | Zornitza Stark Mode of inheritance for gene: SETD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.33 | SETD2 | Zornitza Stark reviewed gene: SETD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29681085; Phenotypes: Luscan-Lumish syndrome, MIM#616831; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.33 | GATAD2B | Zornitza Stark Marked gene: GATAD2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.33 | GATAD2B | Zornitza Stark Gene: gatad2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.33 | GATAD2B | Chirag Patel Classified gene: GATAD2B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.33 | GATAD2B | Chirag Patel Gene: gatad2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.32 | GATAD2B |
Chirag Patel gene: GATAD2B was added gene: GATAD2B was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: GATAD2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATAD2B were set to PMID: 31949314 Phenotypes for gene: GATAD2B were set to Mental retardation, autosomal dominant 18, OMIM # 615074 Review for gene: GATAD2B was set to GREEN Added comment: 50 patients reported in series in 2020: - loss-of-function and missense variants - clinical features of hypotonia, intellectual disability, strabismus, cardiac defects, characteristic facies, childhood apraxia of speech, and macrocephaly. Sources: Literature |
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| Macrocephaly_Megalencephaly v0.31 | TBC1D7 | Zornitza Stark Marked gene: TBC1D7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.31 | TBC1D7 | Zornitza Stark Gene: tbc1d7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.31 | TBC1D7 | Zornitza Stark Phenotypes for gene: TBC1D7 were changed from to Macrocephaly/megalencephaly syndrome, autosomal recessive, MIM# 248000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.30 | TBC1D7 | Zornitza Stark Publications for gene: TBC1D7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.29 | TBC1D7 | Zornitza Stark Mode of inheritance for gene: TBC1D7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.28 | TBC1D7 | Zornitza Stark Classified gene: TBC1D7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.28 | TBC1D7 | Zornitza Stark Gene: tbc1d7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.27 | TBC1D7 | Zornitza Stark reviewed gene: TBC1D7: Rating: AMBER; Mode of pathogenicity: None; Publications: 24515783, 23687350; Phenotypes: Macrocephaly/megalencephaly syndrome, autosomal recessive, MIM# 248000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.27 | PTCH2 | Zornitza Stark Marked gene: PTCH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.27 | PTCH2 | Zornitza Stark Gene: ptch2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.27 | PTCH2 | Zornitza Stark Phenotypes for gene: PTCH2 were changed from to Basal cell nevus syndrome, MIM#109400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.26 | PTCH2 | Zornitza Stark Publications for gene: PTCH2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.25 | PTCH2 | Zornitza Stark Mode of inheritance for gene: PTCH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.24 | PTCH2 | Zornitza Stark Classified gene: PTCH2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.24 | PTCH2 | Zornitza Stark Gene: ptch2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.23 | PTCH2 | Zornitza Stark reviewed gene: PTCH2: Rating: RED; Mode of pathogenicity: None; Publications: 30820324, 23479190, 18285427; Phenotypes: Basal cell nevus syndrome, 109400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.23 | AKT1 | Zornitza Stark Marked gene: AKT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.23 | AKT1 | Zornitza Stark Gene: akt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.23 | AKT1 | Zornitza Stark Phenotypes for gene: AKT1 were changed from Cowden syndrome 6, MIM#615109 to Cowden syndrome 6, MIM#615109 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.22 | AKT1 | Zornitza Stark Phenotypes for gene: AKT1 were changed from to Cowden syndrome 6, MIM#615109 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.21 | AKT1 | Zornitza Stark Publications for gene: AKT1 were set to 23246288 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.21 | AKT1 | Zornitza Stark Publications for gene: AKT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.20 | AKT1 | Zornitza Stark Mode of pathogenicity for gene: AKT1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.20 | AKT1 | Zornitza Stark Mode of inheritance for gene: AKT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.19 | AKT1 | Zornitza Stark Classified gene: AKT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.19 | AKT1 | Zornitza Stark Gene: akt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.18 | AKT1 | Zornitza Stark reviewed gene: AKT1: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23246288; Phenotypes: Cowden syndrome 6, MIM#615109; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.18 | PTCH2 | Kristin Rigbye Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.18 | FIBP | Zornitza Stark Marked gene: FIBP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.18 | FIBP | Zornitza Stark Gene: fibp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.18 | FIBP | Zornitza Stark Phenotypes for gene: FIBP were changed from to Thauvin-Robinet-Faivre syndrome, MIM#617107 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.17 | FIBP | Zornitza Stark Publications for gene: FIBP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.16 | FIBP | Zornitza Stark Mode of inheritance for gene: FIBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.15 | FIBP | Zornitza Stark Classified gene: FIBP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.15 | FIBP | Zornitza Stark Gene: fibp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.14 | FIBP | Zornitza Stark reviewed gene: FIBP: Rating: AMBER; Mode of pathogenicity: None; Publications: 26660953, 27183861; Phenotypes: Thauvin-Robinet-Faivre syndrome, MIM#617107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.14 | RASA2 | Sebastian Lunke Marked gene: RASA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.14 | RASA2 | Sebastian Lunke Gene: rasa2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.14 | RASA2 | Sebastian Lunke Publications for gene: RASA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.13 | RASA2 | Sebastian Lunke Classified gene: RASA2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.13 | RASA2 | Sebastian Lunke Gene: rasa2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.12 | RASA2 | Sebastian Lunke reviewed gene: RASA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.12 | PTCH2 | Kristin Rigbye Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.12 | PTCH2 | Kristin Rigbye commented on gene: PTCH2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.12 |
Zornitza Stark Panel name changed from Macrocephaly/Megalencephaly_VCGS to Macrocephaly_Megalencephaly Panel types changed to Victorian Clinical Genetics Services |
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| Macrocephaly_Megalencephaly v0.11 | RAB34 | Zornitza Stark Marked gene: RAB34 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.11 | RAB34 | Zornitza Stark Gene: rab34 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.11 | RAB34 | Zornitza Stark Classified gene: RAB34 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.11 | RAB34 | Zornitza Stark Gene: rab34 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.10 | RAB34 | Zornitza Stark reviewed gene: RAB34: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.10 | DNMT3A | Zornitza Stark Marked gene: DNMT3A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.10 | DNMT3A | Zornitza Stark Gene: dnmt3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.10 | DNMT3A | Zornitza Stark Phenotypes for gene: DNMT3A were changed from to Tatton-Brown-Rahman syndrome, OMIM# 615879 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.9 | DNMT3A | Zornitza Stark Publications for gene: DNMT3A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.8 | DNMT3A | Zornitza Stark Mode of inheritance for gene: DNMT3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.7 | DNMT3A | Zornitza Stark reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24614070; Phenotypes: Tatton-Brown-Rahman syndrome, OMIM# 615879; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.7 | MLC1 | Tiong Tan Classified gene: MLC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.7 | MLC1 | Tiong Tan Gene: mlc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.6 | MLC1 | Tiong Tan Marked gene: MLC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.6 | MLC1 | Tiong Tan Gene: mlc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.6 | MLC1 | Tiong Tan reviewed gene: MLC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11254442, 18757878, 16652334; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts OMIM#604004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.5 | MLC1 |
Tiong Tan gene: MLC1 was added gene: MLC1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Literature Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MLC1 were set to 11254442; 18757878; 16652334 Phenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy with subcortical cysts OMIM#604004 Penetrance for gene: MLC1 were set to Complete |
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| Macrocephaly_Megalencephaly v0.4 | HERC1 | Tiong Tan Marked gene: HERC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.4 | HERC1 | Tiong Tan Gene: herc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.4 | HERC1 | Tiong Tan Classified gene: HERC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.4 | HERC1 | Tiong Tan Gene: herc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.3 | HERC1 |
Tiong Tan gene: HERC1 was added gene: HERC1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Literature Mode of inheritance for gene: HERC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HERC1 were set to 27108999; 26153217; 26138117 Phenotypes for gene: HERC1 were set to MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION OMIM#617011 Penetrance for gene: HERC1 were set to Complete Review for gene: HERC1 was set to GREEN Added comment: Sources: Literature |
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| Macrocephaly_Megalencephaly v0.2 | RNF135 | Zornitza Stark Marked gene: RNF135 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.2 | RNF135 | Zornitza Stark Gene: rnf135 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.2 | RNF135 | Zornitza Stark Classified gene: RNF135 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.2 | RNF135 | Zornitza Stark Gene: rnf135 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.0 | TYROBP |
Zornitza Stark gene: TYROBP was added gene: TYROBP was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TYROBP was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | TRAF7 |
Zornitza Stark gene: TRAF7 was added gene: TRAF7 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TRAF7 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | TNFSF11 |
Zornitza Stark gene: TNFSF11 was added gene: TNFSF11 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TNFSF11 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | TNFRSF11A |
Zornitza Stark gene: TNFRSF11A was added gene: TNFRSF11A was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TNFRSF11A was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | TGFB1 |
Zornitza Stark gene: TGFB1 was added gene: TGFB1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TGFB1 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | TCIRG1 |
Zornitza Stark gene: TCIRG1 was added gene: TCIRG1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TCIRG1 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | TCF20 |
Zornitza Stark gene: TCF20 was added gene: TCF20 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TCF20 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | TBCK |
Zornitza Stark gene: TBCK was added gene: TBCK was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TBCK was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | TBC1D7 |
Zornitza Stark gene: TBC1D7 was added gene: TBC1D7 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TBC1D7 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | TAOK1 |
Zornitza Stark gene: TAOK1 was added gene: TAOK1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TAOK1 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | SUZ12 |
Zornitza Stark gene: SUZ12 was added gene: SUZ12 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SUZ12 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | SUFU |
Zornitza Stark gene: SUFU was added gene: SUFU was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SUFU was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | STRADA |
Zornitza Stark gene: STRADA was added gene: STRADA was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: STRADA was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | SPRED1 |
Zornitza Stark gene: SPRED1 was added gene: SPRED1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SPRED1 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | SOST |
Zornitza Stark gene: SOST was added gene: SOST was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SOST was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | SOS2 |
Zornitza Stark gene: SOS2 was added gene: SOS2 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SOS2 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | SOS1 |
Zornitza Stark gene: SOS1 was added gene: SOS1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SOS1 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | SNX10 |
Zornitza Stark gene: SNX10 was added gene: SNX10 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SNX10 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | SLC25A1 |
Zornitza Stark gene: SLC25A1 was added gene: SLC25A1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC25A1 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | SLC17A5 |
Zornitza Stark gene: SLC17A5 was added gene: SLC17A5 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC17A5 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | SHOC2 |
Zornitza Stark gene: SHOC2 was added gene: SHOC2 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SHOC2 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | SGSH |
Zornitza Stark gene: SGSH was added gene: SGSH was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SGSH was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | SETD2 |
Zornitza Stark gene: SETD2 was added gene: SETD2 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SETD2 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | RRAS |
Zornitza Stark gene: RRAS was added gene: RRAS was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RRAS was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | RNF135 |
Zornitza Stark gene: RNF135 was added gene: RNF135 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RNF135 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | RNF125 |
Zornitza Stark gene: RNF125 was added gene: RNF125 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RNF125 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | RIT1 |
Zornitza Stark gene: RIT1 was added gene: RIT1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RIT1 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | RIN2 |
Zornitza Stark gene: RIN2 was added gene: RIN2 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RIN2 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | RHEB |
Zornitza Stark gene: RHEB was added gene: RHEB was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RHEB was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | RASGRP2 |
Zornitza Stark gene: RASGRP2 was added gene: RASGRP2 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RASGRP2 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | RASA2 |
Zornitza Stark gene: RASA2 was added gene: RASA2 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RASA2 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | RAF1 |
Zornitza Stark gene: RAF1 was added gene: RAF1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RAF1 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | RAB34 |
Zornitza Stark gene: RAB34 was added gene: RAB34 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RAB34 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | PTPN11 |
Zornitza Stark gene: PTPN11 was added gene: PTPN11 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PTPN11 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | PTH1R |
Zornitza Stark gene: PTH1R was added gene: PTH1R was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PTH1R was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | PTEN |
Zornitza Stark gene: PTEN was added gene: PTEN was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PTEN was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | PTCH2 |
Zornitza Stark gene: PTCH2 was added gene: PTCH2 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PTCH2 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | PTCH1 |
Zornitza Stark gene: PTCH1 was added gene: PTCH1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PTCH1 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | PSAP |
Zornitza Stark gene: PSAP was added gene: PSAP was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PSAP was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | PPP1CB |
Zornitza Stark gene: PPP1CB was added gene: PPP1CB was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PPP1CB was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | PLEKHM1 |
Zornitza Stark gene: PLEKHM1 was added gene: PLEKHM1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PLEKHM1 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | PIK3R2 |
Zornitza Stark gene: PIK3R2 was added gene: PIK3R2 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PIK3R2 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | PIK3CA |
Zornitza Stark gene: PIK3CA was added gene: PIK3CA was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PIK3CA was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | PHF6 |
Zornitza Stark gene: PHF6 was added gene: PHF6 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PHF6 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | PDGFRB |
Zornitza Stark gene: PDGFRB was added gene: PDGFRB was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PDGFRB was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | OSTM1 |
Zornitza Stark gene: OSTM1 was added gene: OSTM1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: OSTM1 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | OFD1 |
Zornitza Stark gene: OFD1 was added gene: OFD1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: OFD1 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | NSD1 |
Zornitza Stark gene: NSD1 was added gene: NSD1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NSD1 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | NRAS |
Zornitza Stark gene: NRAS was added gene: NRAS was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NRAS was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | NFIX |
Zornitza Stark gene: NFIX was added gene: NFIX was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NFIX was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | NFIB |
Zornitza Stark gene: NFIB was added gene: NFIB was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NFIB was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | NF1 |
Zornitza Stark gene: NF1 was added gene: NF1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NF1 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | NEU1 |
Zornitza Stark gene: NEU1 was added gene: NEU1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NEU1 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | NAGLU |
Zornitza Stark gene: NAGLU was added gene: NAGLU was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NAGLU was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | NAGA |
Zornitza Stark gene: NAGA was added gene: NAGA was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NAGA was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | MTOR |
Zornitza Stark gene: MTOR was added gene: MTOR was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MTOR was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | MED12 |
Zornitza Stark gene: MED12 was added gene: MED12 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MED12 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | MCOLN1 |
Zornitza Stark gene: MCOLN1 was added gene: MCOLN1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MCOLN1 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | MAP2K2 |
Zornitza Stark gene: MAP2K2 was added gene: MAP2K2 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MAP2K2 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | MAP2K1 |
Zornitza Stark gene: MAP2K1 was added gene: MAP2K1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MAP2K1 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | MANBA |
Zornitza Stark gene: MANBA was added gene: MANBA was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MANBA was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | MAN2B1 |
Zornitza Stark gene: MAN2B1 was added gene: MAN2B1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MAN2B1 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | LZTR1 |
Zornitza Stark gene: LZTR1 was added gene: LZTR1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LZTR1 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | LRP5 |
Zornitza Stark gene: LRP5 was added gene: LRP5 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LRP5 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | LEMD3 |
Zornitza Stark gene: LEMD3 was added gene: LEMD3 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LEMD3 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | L2HGDH |
Zornitza Stark gene: L2HGDH was added gene: L2HGDH was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: L2HGDH was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | KRAS |
Zornitza Stark gene: KRAS was added gene: KRAS was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KRAS was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | KMT2E |
Zornitza Stark gene: KMT2E was added gene: KMT2E was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KMT2E was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | KIF7 |
Zornitza Stark gene: KIF7 was added gene: KIF7 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KIF7 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | IKBKG |
Zornitza Stark gene: IKBKG was added gene: IKBKG was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IKBKG was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | IDUA |
Zornitza Stark gene: IDUA was added gene: IDUA was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IDUA was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | IDS |
Zornitza Stark gene: IDS was added gene: IDS was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IDS was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | HYAL1 |
Zornitza Stark gene: HYAL1 was added gene: HYAL1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HYAL1 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | HRAS |
Zornitza Stark gene: HRAS was added gene: HRAS was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HRAS was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | HGSNAT |
Zornitza Stark gene: HGSNAT was added gene: HGSNAT was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HGSNAT was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | HEXB |
Zornitza Stark gene: HEXB was added gene: HEXB was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HEXB was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | HEXA |
Zornitza Stark gene: HEXA was added gene: HEXA was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HEXA was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | GUSB |
Zornitza Stark gene: GUSB was added gene: GUSB was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GUSB was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | GPC3 |
Zornitza Stark gene: GPC3 was added gene: GPC3 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GPC3 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | GNS |
Zornitza Stark gene: GNS was added gene: GNS was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GNS was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | GNPTG |
Zornitza Stark gene: GNPTG was added gene: GNPTG was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GNPTG was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | GNPTAB |
Zornitza Stark gene: GNPTAB was added gene: GNPTAB was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GNPTAB was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | GLI3 |
Zornitza Stark gene: GLI3 was added gene: GLI3 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GLI3 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | GLB1 |
Zornitza Stark gene: GLB1 was added gene: GLB1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GLB1 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | GFAP |
Zornitza Stark gene: GFAP was added gene: GFAP was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GFAP was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | GCDH |
Zornitza Stark gene: GCDH was added gene: GCDH was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GCDH was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | GALNS |
Zornitza Stark gene: GALNS was added gene: GALNS was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GALNS was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | GALC |
Zornitza Stark gene: GALC was added gene: GALC was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GALC was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | FUCA1 |
Zornitza Stark gene: FUCA1 was added gene: FUCA1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FUCA1 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | FIBP |
Zornitza Stark gene: FIBP was added gene: FIBP was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FIBP was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | FERMT3 |
Zornitza Stark gene: FERMT3 was added gene: FERMT3 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FERMT3 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | FAM20C |
Zornitza Stark gene: FAM20C was added gene: FAM20C was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FAM20C was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | EZH2 |
Zornitza Stark gene: EZH2 was added gene: EZH2 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EZH2 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | EED |
Zornitza Stark gene: EED was added gene: EED was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EED was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | DNMT3A |
Zornitza Stark gene: DNMT3A was added gene: DNMT3A was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DNMT3A was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | DIS3L2 |
Zornitza Stark gene: DIS3L2 was added gene: DIS3L2 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DIS3L2 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | D2HGDH |
Zornitza Stark gene: D2HGDH was added gene: D2HGDH was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: D2HGDH was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | CTSK |
Zornitza Stark gene: CTSK was added gene: CTSK was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CTSK was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | CTSA |
Zornitza Stark gene: CTSA was added gene: CTSA was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CTSA was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | CLCN7 |
Zornitza Stark gene: CLCN7 was added gene: CLCN7 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CLCN7 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | CHD8 |
Zornitza Stark gene: CHD8 was added gene: CHD8 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CHD8 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | CHD3 |
Zornitza Stark gene: CHD3 was added gene: CHD3 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CHD3 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | CDKN1C |
Zornitza Stark gene: CDKN1C was added gene: CDKN1C was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CDKN1C was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | CCND2 |
Zornitza Stark gene: CCND2 was added gene: CCND2 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CCND2 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | CBL |
Zornitza Stark gene: CBL was added gene: CBL was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CBL was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | CA2 |
Zornitza Stark gene: CA2 was added gene: CA2 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CA2 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | BRAF |
Zornitza Stark gene: BRAF was added gene: BRAF was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BRAF was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | ATP7A |
Zornitza Stark gene: ATP7A was added gene: ATP7A was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ATP7A was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | ASXL2 |
Zornitza Stark gene: ASXL2 was added gene: ASXL2 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ASXL2 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | ASPA |
Zornitza Stark gene: ASPA was added gene: ASPA was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ASPA was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | ARSB |
Zornitza Stark gene: ARSB was added gene: ARSB was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ARSB was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | ANKH |
Zornitza Stark gene: ANKH was added gene: ANKH was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ANKH was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | AMER1 |
Zornitza Stark gene: AMER1 was added gene: AMER1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AMER1 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | AKT3 |
Zornitza Stark gene: AKT3 was added gene: AKT3 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AKT3 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | AKT1 |
Zornitza Stark gene: AKT1 was added gene: AKT1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AKT1 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | AGA |
Zornitza Stark gene: AGA was added gene: AGA was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AGA was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | ABCC9 |
Zornitza Stark gene: ABCC9 was added gene: ABCC9 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ABCC9 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | A2ML1 |
Zornitza Stark gene: A2ML1 was added gene: A2ML1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: A2ML1 was set to Unknown |
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| Macrocephaly_Megalencephaly v0.0 | Zornitza Stark Added panel Macrocephaly/Megalencephaly_VCGS | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||