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Lissencephaly and Band Heterotopia v1.19 CASP2 Zornitza Stark Phenotypes for gene: CASP2 were changed from neurodevelopmental disorder MONDO:0700092, CASP2-related to Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, MIM# 620653
Lissencephaly and Band Heterotopia v1.18 CASP2 Zornitza Stark reviewed gene: CASP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, MIM# 620653; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v1.18 MFN2 Elena Savva Classified gene: MFN2 as Amber List (moderate evidence)
Lissencephaly and Band Heterotopia v1.18 MFN2 Elena Savva Gene: mfn2 has been classified as Amber List (Moderate Evidence).
Lissencephaly and Band Heterotopia v1.18 MFN2 Elena Savva Classified gene: MFN2 as Amber List (moderate evidence)
Lissencephaly and Band Heterotopia v1.18 MFN2 Elena Savva Gene: mfn2 has been classified as Amber List (Moderate Evidence).
Lissencephaly and Band Heterotopia v1.17 MFN2 Elena Savva Classified gene: MFN2 as Amber List (moderate evidence)
Lissencephaly and Band Heterotopia v1.17 MFN2 Elena Savva Gene: mfn2 has been classified as Amber List (Moderate Evidence).
Lissencephaly and Band Heterotopia v1.16 MFN2 Elena Savva Marked gene: MFN2 as ready
Lissencephaly and Band Heterotopia v1.16 MFN2 Elena Savva Gene: mfn2 has been removed from the panel.
Lissencephaly and Band Heterotopia v1.16 MFN2 Andrew Fennell gene: MFN2 was added
gene: MFN2 was added to Lissencephaly and Band Heterotopia. Sources: Literature
Mode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFN2 were set to PMID: 37804319
Phenotypes for gene: MFN2 were set to Mitochondrial disease, MONDO:0044970, MFN2-related
Review for gene: MFN2 was set to AMBER
Added comment: A single report of fetus with severe antenatal encephalopathy with lissencephaly, polymicrogyria, and cerebellar atrophy. The authors identified a homozygous in-frame deletion leading to exon 16 skipping and in-frame loss of 50 amino acids 13 (p.Gln574_Val624del). Functional evidence of mitochondrial dysfunction (clumping) and respiratory chain complex deficiencies.
Sources: Literature
Lissencephaly and Band Heterotopia v1.16 CASP2 Ain Roesley Marked gene: CASP2 as ready
Lissencephaly and Band Heterotopia v1.16 CASP2 Ain Roesley Gene: casp2 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v1.16 CASP2 Ain Roesley Classified gene: CASP2 as Green List (high evidence)
Lissencephaly and Band Heterotopia v1.16 CASP2 Ain Roesley Gene: casp2 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v1.15 CASP2 Chris Ciotta gene: CASP2 was added
gene: CASP2 was added to Lissencephaly and Band Heterotopia. Sources: Literature
Mode of inheritance for gene: CASP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CASP2 were set to PMID: 37880421
Phenotypes for gene: CASP2 were set to neurodevelopmental disorder MONDO:0700092, CASP2-related
Review for gene: CASP2 was set to GREEN
gene: CASP2 was marked as current diagnostic
Added comment: 7 patients from 5 families:
- 4 families homozygous for PTC.
- 1 family compound heterozygote for splice site + PTC. RNA studies indicate usage of 2 cryptic splice donor sites.

5/5 have ID/dev delay
1/5 seizures
2/5 hypotonia
3/5 Lissencephaly (pachygyria + cortical thickening)
Sources: Literature
Lissencephaly and Band Heterotopia v1.15 CAMSAP1 Zornitza Stark Phenotypes for gene: CAMSAP1 were changed from lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related to Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316
Lissencephaly and Band Heterotopia v1.14 CAMSAP1 Zornitza Stark reviewed gene: CAMSAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v1.14 CDK5 Zornitza Stark Publications for gene: CDK5 were set to 25560765
Lissencephaly and Band Heterotopia v1.13 CDK5 Zornitza Stark Classified gene: CDK5 as Amber List (moderate evidence)
Lissencephaly and Band Heterotopia v1.13 CDK5 Zornitza Stark Gene: cdk5 has been classified as Amber List (Moderate Evidence).
Lissencephaly and Band Heterotopia v1.12 CDK5 Zornitza Stark edited their review of gene: CDK5: Added comment: Upgraded to Amber following GenCC discrepancy resolution: single family with four affected individuals but extensive supportive experimental evidence including mouse models.; Changed rating: AMBER; Changed publications: 25560765, 32273484, 32097629, 28854363, 7490100; Changed phenotypes: Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342
Lissencephaly and Band Heterotopia v1.12 CAMSAP1 Zornitza Stark Marked gene: CAMSAP1 as ready
Lissencephaly and Band Heterotopia v1.12 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v1.12 CAMSAP1 Zornitza Stark Classified gene: CAMSAP1 as Green List (high evidence)
Lissencephaly and Band Heterotopia v1.12 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v1.11 CAMSAP1 Naomi Baker gene: CAMSAP1 was added
gene: CAMSAP1 was added to Lissencephaly and Band Heterotopia. Sources: Literature
Mode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAMSAP1 were set to 36283405
Phenotypes for gene: CAMSAP1 were set to lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related
Review for gene: CAMSAP1 was set to GREEN
Added comment: Five unrelated families with bi-allelic loss-of-function variants. Clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, lissencephaly, agenesis or severe hypogenesis of the corpus callosum, severe neurodevelopmental delay, cortical visual impairment, and seizures.
Sources: Literature
Lissencephaly and Band Heterotopia v1.11 Zornitza Stark List of related panels changed from to Lissencephaly HP:0001339;Subcortical band heterotopia HP:0032409
Lissencephaly and Band Heterotopia v1.10 BICD2 Zornitza Stark Marked gene: BICD2 as ready
Lissencephaly and Band Heterotopia v1.10 BICD2 Zornitza Stark Gene: bicd2 has been classified as Red List (Low Evidence).
Lissencephaly and Band Heterotopia v1.10 BICD2 Zornitza Stark Classified gene: BICD2 as Red List (low evidence)
Lissencephaly and Band Heterotopia v1.10 BICD2 Zornitza Stark Gene: bicd2 has been classified as Red List (Low Evidence).
Lissencephaly and Band Heterotopia v1.9 BICD2 Lucy Spencer gene: BICD2 was added
gene: BICD2 was added to Lissencephaly and Band Heterotopia. Sources: Literature
Mode of inheritance for gene: BICD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BICD2 were set to 35896821
Phenotypes for gene: BICD2 were set to Neurodevelopmental disorder (MONDO#0700092), BICD2-related
Review for gene: BICD2 was set to RED
Added comment: Child with developmental delay, microcephaly, dysmorphic facial features, optic atrophy, lissencephaly, hypogenesis of the corpus callosum and cerebellar hypoplasia. Also short stature and underweight. Found to have a homozygous NMD predicted stop gain variant (consanguineous parents). This paper reviews previous patients and found others with brain abnormalities including cerebellar hypoplasia but it looks like lissencephaly is a new phenotype in this individual associated with AR LOF variants (most previous variants are single heterozygous missense).
Sources: Literature
Lissencephaly and Band Heterotopia v1.9 RELN Zornitza Stark Publications for gene: RELN were set to 10973257; 29671837; 31805691
Lissencephaly and Band Heterotopia v1.8 RELN Zornitza Stark Mode of inheritance for gene: RELN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v1.7 RELN Zornitza Stark changed review comment from: PMID 35769015: 13 individuals from seven families with monoallelic (heterozygous) variants of RELN and frontotemporal or temporal-predominant lissencephaly variant. Some individuals with monoallelic variants had moderate frontotemporal lissencephaly, but with normal cerebellar structure and intellectual disability with severe behavioural dysfunction. However, one adult had abnormal MRI with normal intelligence and neurological profile.; to: PMID 35769015: 13 individuals from seven families with monoallelic (heterozygous) variants of RELN and frontotemporal or temporal-predominant lissencephaly variant. Some individuals with monoallelic variants had moderate frontotemporal lissencephaly, but with normal cerebellar structure and intellectual disability with severe behavioural dysfunction. However, one adult had abnormal MRI with normal intelligence and neurological profile.

Additional 7 individuals from 4 families with bi-allelic variants.
Lissencephaly and Band Heterotopia v1.7 RELN Zornitza Stark edited their review of gene: RELN: Added comment: PMID 35769015: 13 individuals from seven families with monoallelic (heterozygous) variants of RELN and frontotemporal or temporal-predominant lissencephaly variant. Some individuals with monoallelic variants had moderate frontotemporal lissencephaly, but with normal cerebellar structure and intellectual disability with severe behavioural dysfunction. However, one adult had abnormal MRI with normal intelligence and neurological profile.; Changed publications: 10973257, 29671837, 31805691, 35769015; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v1.7 PIDD1 Zornitza Stark Phenotypes for gene: PIDD1 were changed from Global developmental delay; Intellectual disability; Seizures; Autism; Behavioral abnormality; Psychosis; Pachygyria; Lissencephaly; Abnormality of the corpus callosum to Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827
Lissencephaly and Band Heterotopia v1.6 PIDD1 Zornitza Stark edited their review of gene: PIDD1: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827
Lissencephaly and Band Heterotopia v1.6 PIDD1 Zornitza Stark Marked gene: PIDD1 as ready
Lissencephaly and Band Heterotopia v1.6 PIDD1 Zornitza Stark Gene: pidd1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v1.6 PIDD1 Zornitza Stark Classified gene: PIDD1 as Green List (high evidence)
Lissencephaly and Band Heterotopia v1.6 PIDD1 Zornitza Stark Gene: pidd1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v1.5 PIDD1 Zornitza Stark gene: PIDD1 was added
gene: PIDD1 was added to Lissencephaly and Band Heterotopia. Sources: Expert Review
Mode of inheritance for gene: PIDD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIDD1 were set to 28397838; 29302074; 33414379; 34163010
Phenotypes for gene: PIDD1 were set to Global developmental delay; Intellectual disability; Seizures; Autism; Behavioral abnormality; Psychosis; Pachygyria; Lissencephaly; Abnormality of the corpus callosum
Review for gene: PIDD1 was set to GREEN
Added comment: There is enough evidence to include this gene in the current panel with green rating.

Biallelic PIDD1 pathogenic variants have been reported in 26 individuals (11 families) with DD (all), variable degrees of ID (mild to severe), behavioral (eg. aggression/self-mutilation in several, ADHD) and/or psychiatric abnormalities (ASD, psychosis in 5 belonging to 3 families), well-controlled epilepsy is some (9 subjects from 6 families) and MRI abnormalities notably abnormal gyration pattern (pachygyria with predominant anterior gradient) as well as corpus callosum anomalies (commonly thinning) in several. Dysmorphic features have been reported in almost all, although there has been no specific feature suggested.

The first reports on the phenotype associated with biallelic PIDD1 mutations were made by Harripaul et al (2018 - PMID: 28397838) and Hu et al (2019 - PMID: 29302074) [both studies investigating large cohorts of individuals with ID from consanguineous families].

Sheikh et al (2021 - PMID: 33414379) provided details on the phenotype of 15 individuals from 5 families including those from the previous 2 reports and studied provided evidence on the role of PIDD1 and the effect of variants.

Zaki et al (2021 - PMID: 34163010) reported 11 additional individuals from 6 consanguineous families, summarize the features of all subjects published in the literature and review the neuroradiological features of the disorder.

PIDD1 encodes p53-induced death domain protein 1. The protein is part of the PIDDosome, a multiprotein complex also composed of the bipartite linker protein CRADD (also known as RAIDD) and the proform of caspase-2 and induces apoptosis in response to DNA damage.

There are 5 potential PIDD1 mRNA transcript variants with NM_145886.4 corresponding to the longest. Similar to the protein encoded by CRADD, PIDD1 contains a death domain (DD - aa 774-893). Constitutive post-translational processing gives PIDD1-N, PIDD1-C the latter further processed into PIDD1-CC (by auto-cleavage). Serine residues at pos. 446 and 588 are involved in this autoprocessing generating PIDD1-C (aa 446-910) and PIDD1-CC (aa 774-893). The latter is needed for caspase-2 activation.

Most (if not all) individuals belonged to consanguineous families of different origins and harbored pLoF or missense variants.

Variants reported so far include : c.2587C>T; p.Gln863* / c.1909C>T ; p.Arg637* / c.2443C>T / p.Arg815Trp / c.2275-1G>A which upon trap assay was shown to lead to skipping of ex15 with direct splicing form exon14 to the terminal exon 16 (resulting to p.Arg759Glyfs*1 with exlcusion of the entire DD) / c.2584C>T; p.Arg862Trp / c.1340G>A; p.Trp447* / c.2116_2120del; p.Val706His*, c.1564_1565del; p.Gly602fs*26

Evidence so far provided includes:
- Biallelic CRADD variants cause a NDD disorder and a highly similar gyration pattern.
- Confirmation of splicing effect (eg. for c.2275-1G>A premature stop in position 760) or poor expression (NM_145886.3:c.2587C>T; p.Gln863*). Arg815Trp did not affect autoprocessing or protein stability.
- Abnormal localization pattern, loss of interaction with CRADD and failure to activate caspase-2 (MDM2 cleavage assay) [p.Gln863* and Arg815Trp]
- Available expression data from GTEx (PIDD1 having broad expression in multiple tissues, but higher in brain cerebellum) as well as BrainSpan and PsychEncode studies suggesting high coexpression of PIDD1, CRADD and CASP2 in many regions in the developing human brain.
- Variants in other genes encoding proteins interacting with PIDD1 (MADD, FADD, DNAJ, etc) are associated with NDD.

Pidd-1 ko mice (ex3-15 removal) lack however CNS-related phenotypes. These show decreased anxiety but no motor anomalies. This has also been the case with Cradd-/- mice displaying no significant CNS phenotypes without lamination defects.
Sources: Expert Review
Lissencephaly and Band Heterotopia v1.4 TP73 Zornitza Stark Phenotypes for gene: TP73 were changed from brain malformation; lissencephaly to Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466; brain malformation; lissencephaly
Lissencephaly and Band Heterotopia v1.3 TP73 Zornitza Stark reviewed gene: TP73: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466; Mode of inheritance: None
Lissencephaly and Band Heterotopia v1.3 TP73 Seb Lunke Marked gene: TP73 as ready
Lissencephaly and Band Heterotopia v1.3 TP73 Seb Lunke Gene: tp73 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v1.3 TP73 Seb Lunke Phenotypes for gene: TP73 were changed from chronic airway disease; brain malformation; lissencephaly to brain malformation; lissencephaly
Lissencephaly and Band Heterotopia v1.2 TP73 Seb Lunke Classified gene: TP73 as Green List (high evidence)
Lissencephaly and Band Heterotopia v1.2 TP73 Seb Lunke Gene: tp73 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v1.1 TP73 Ee Ming Wong gene: TP73 was added
gene: TP73 was added to Lissencephaly and Band Heterotopia. Sources: Literature
Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TP73 were set to 34077761
Phenotypes for gene: TP73 were set to chronic airway disease; brain malformation; lissencephaly
Review for gene: TP73 was set to GREEN
gene: TP73 was marked as current diagnostic
Added comment: - Seven individuals from five unrelated families homozygous for TP73 variants (includes 1x large deletion, 1x splice variant, 1x frameshift and 2x nonsense variants)
- In vitro ciliogenesis experiments demonstrated that epithelial cells from TP73 variant carriers had reduced number of ciliated cells and shortened cilia resulting in abnormal ciliary clearance of the airways compared to healthy controls
Sources: Literature
Lissencephaly and Band Heterotopia v1.0 Zornitza Stark promoted panel to version 1.0
Lissencephaly and Band Heterotopia v0.107 TMEM5 Zornitza Stark Tag new gene name tag was added to gene: TMEM5.
Lissencephaly and Band Heterotopia v0.107 TMEM5 Zornitza Stark commented on gene: TMEM5: New gene name is RXYLT1.
Lissencephaly and Band Heterotopia v0.107 RELN Zornitza Stark Marked gene: RELN as ready
Lissencephaly and Band Heterotopia v0.107 RELN Zornitza Stark Gene: reln has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.107 RELN Zornitza Stark Phenotypes for gene: RELN were changed from to Lissencephaly 2 (Norman-Roberts type), MIM# 257320
Lissencephaly and Band Heterotopia v0.106 RELN Zornitza Stark Publications for gene: RELN were set to
Lissencephaly and Band Heterotopia v0.105 RELN Zornitza Stark Mode of inheritance for gene: RELN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.104 RELN Zornitza Stark reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: None; Publications: 10973257, 29671837, 31805691; Phenotypes: Lissencephaly 2 (Norman-Roberts type), MIM# 257320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.104 LAMB1 Zornitza Stark Marked gene: LAMB1 as ready
Lissencephaly and Band Heterotopia v0.104 LAMB1 Zornitza Stark Gene: lamb1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.104 PAFAH1B1 Zornitza Stark changed review comment from: Lissencephaly due to PAFAH1B1 (prev known as LIS1) mutation is a cerebral malformation with epilepsy characterised predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.; to: Lissencephaly due to PAFAH1B1 (prev known as LIS1) mutation is a cerebral malformation with epilepsy characterised predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia. Note deletions are common.
Lissencephaly and Band Heterotopia v0.104 PAFAH1B1 Zornitza Stark Marked gene: PAFAH1B1 as ready
Lissencephaly and Band Heterotopia v0.104 PAFAH1B1 Zornitza Stark Gene: pafah1b1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.104 PAFAH1B1 Zornitza Stark Tag SV/CNV tag was added to gene: PAFAH1B1.
Lissencephaly and Band Heterotopia v0.104 PAFAH1B1 Zornitza Stark Phenotypes for gene: PAFAH1B1 were changed from to Lissencephaly 1, MIM# 607432; Subcortical laminar heterotopia, MIM# 607432; MONDO:0011830
Lissencephaly and Band Heterotopia v0.103 PAFAH1B1 Zornitza Stark Publications for gene: PAFAH1B1 were set to
Lissencephaly and Band Heterotopia v0.102 PAFAH1B1 Zornitza Stark Mode of inheritance for gene: PAFAH1B1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lissencephaly and Band Heterotopia v0.101 PAFAH1B1 Zornitza Stark reviewed gene: PAFAH1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11754098, 18285425; Phenotypes: Lissencephaly 1, MIM# 607432, Subcortical laminar heterotopia, MIM# 607432, MONDO:0011830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lissencephaly and Band Heterotopia v0.101 LARGE1 Zornitza Stark Marked gene: LARGE1 as ready
Lissencephaly and Band Heterotopia v0.101 LARGE1 Zornitza Stark Gene: large1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.101 LARGE1 Zornitza Stark Phenotypes for gene: LARGE1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840
Lissencephaly and Band Heterotopia v0.100 LARGE1 Zornitza Stark Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.99 LARGE1 Zornitza Stark reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.99 LAMB1 Zornitza Stark Phenotypes for gene: LAMB1 were changed from to Lissencephaly 5, MIM# 615191
Lissencephaly and Band Heterotopia v0.98 LAMB1 Zornitza Stark Publications for gene: LAMB1 were set to
Lissencephaly and Band Heterotopia v0.97 LAMB1 Zornitza Stark Mode of inheritance for gene: LAMB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.96 LAMB1 Zornitza Stark reviewed gene: LAMB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23472759, 25925986, 29888467; Phenotypes: Lissencephaly 5, MIM# 615191; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.96 TMEM5 Zornitza Stark Marked gene: TMEM5 as ready
Lissencephaly and Band Heterotopia v0.96 TMEM5 Zornitza Stark Gene: tmem5 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.96 TMEM5 Zornitza Stark Phenotypes for gene: TMEM5 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041
Lissencephaly and Band Heterotopia v0.95 TMEM5 Zornitza Stark Publications for gene: TMEM5 were set to
Lissencephaly and Band Heterotopia v0.94 TMEM5 Zornitza Stark Mode of inheritance for gene: TMEM5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.93 TMEM5 Zornitza Stark edited their review of gene: TMEM5: Changed publications: 23217329, 23519211
Lissencephaly and Band Heterotopia v0.93 TMEM5 Zornitza Stark reviewed gene: TMEM5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.93 KIF5C Zornitza Stark Marked gene: KIF5C as ready
Lissencephaly and Band Heterotopia v0.93 KIF5C Zornitza Stark Gene: kif5c has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.93 KIF5C Zornitza Stark Phenotypes for gene: KIF5C were changed from to Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282
Lissencephaly and Band Heterotopia v0.92 KIF5C Zornitza Stark Publications for gene: KIF5C were set to
Lissencephaly and Band Heterotopia v0.91 KIF5C Zornitza Stark Mode of inheritance for gene: KIF5C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lissencephaly and Band Heterotopia v0.90 KIF5C Zornitza Stark reviewed gene: KIF5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 23603762, 23033978, 32562872; Phenotypes: Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lissencephaly and Band Heterotopia v0.90 KIF2A Zornitza Stark Marked gene: KIF2A as ready
Lissencephaly and Band Heterotopia v0.90 KIF2A Zornitza Stark Gene: kif2a has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.90 KIF2A Zornitza Stark Phenotypes for gene: KIF2A were changed from to Cortical dysplasia, complex, with other brain malformations 3, MIM# 615411
Lissencephaly and Band Heterotopia v0.89 KIF2A Zornitza Stark Publications for gene: KIF2A were set to
Lissencephaly and Band Heterotopia v0.88 KIF2A Zornitza Stark Mode of inheritance for gene: KIF2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lissencephaly and Band Heterotopia v0.87 KIF2A Zornitza Stark reviewed gene: KIF2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23603762, 27896282, 27747449, 29077851, 31919497; Phenotypes: Cortical dysplasia, complex, with other brain malformations 3, MIM# 615411; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lissencephaly and Band Heterotopia v0.87 DCX Zornitza Stark Marked gene: DCX as ready
Lissencephaly and Band Heterotopia v0.87 DCX Zornitza Stark Gene: dcx has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.87 ISPD Zornitza Stark edited their review of gene: ISPD: Changed publications: 22522421, 23217329
Lissencephaly and Band Heterotopia v0.87 ISPD Zornitza Stark Publications for gene: ISPD were set to 22522421
Lissencephaly and Band Heterotopia v0.86 ISPD Zornitza Stark Marked gene: ISPD as ready
Lissencephaly and Band Heterotopia v0.86 ISPD Zornitza Stark Gene: ispd has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.86 ISPD Zornitza Stark Phenotypes for gene: ISPD were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643
Lissencephaly and Band Heterotopia v0.85 ISPD Zornitza Stark Publications for gene: ISPD were set to
Lissencephaly and Band Heterotopia v0.84 ISPD Zornitza Stark Mode of inheritance for gene: ISPD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.83 ISPD Zornitza Stark reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 22522421; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.83 DYNC1H1 Zornitza Stark Marked gene: DYNC1H1 as ready
Lissencephaly and Band Heterotopia v0.83 DYNC1H1 Zornitza Stark Gene: dync1h1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.83 DYNC1H1 Zornitza Stark Phenotypes for gene: DYNC1H1 were changed from to Mental retardation, autosomal dominant 13, MIM# 614563
Lissencephaly and Band Heterotopia v0.82 DYNC1H1 Zornitza Stark Publications for gene: DYNC1H1 were set to
Lissencephaly and Band Heterotopia v0.81 DYNC1H1 Zornitza Stark Mode of inheritance for gene: DYNC1H1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lissencephaly and Band Heterotopia v0.80 DYNC1H1 Zornitza Stark changed review comment from: Variable neuronal migration defects resulting in cortical malformations, including pachygyria, nodular heterotopias, and PMG.; to: Variable neuronal migration defects resulting in cortical malformations, including pachygyria, lissencephaly, nodular heterotopias, and PMG.
Lissencephaly and Band Heterotopia v0.80 DYNC1H1 Zornitza Stark edited their review of gene: DYNC1H1: Changed publications: 23603762, 29671837, 32570172, 27331017
Lissencephaly and Band Heterotopia v0.80 DYNC1H1 Zornitza Stark edited their review of gene: DYNC1H1: Changed publications: 23603762
Lissencephaly and Band Heterotopia v0.80 DYNC1H1 Zornitza Stark reviewed gene: DYNC1H1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 13, MIM# 614563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lissencephaly and Band Heterotopia v0.80 DCX Zornitza Stark Phenotypes for gene: DCX were changed from to Lissencephaly, X-linked, MIM# 300067; Subcortical laminal heterotopia, X-linked 300067
Lissencephaly and Band Heterotopia v0.79 DCX Zornitza Stark Publications for gene: DCX were set to
Lissencephaly and Band Heterotopia v0.78 DCX Zornitza Stark Mode of inheritance for gene: DCX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Lissencephaly and Band Heterotopia v0.77 DCX Zornitza Stark reviewed gene: DCX: Rating: GREEN; Mode of pathogenicity: None; Publications: 10915612, 9489699, 12552055; Phenotypes: Lissencephaly, X-linked, MIM# 300067, Subcortical laminal heterotopia, X-linked 300067; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Lissencephaly and Band Heterotopia v0.77 B3GALNT2 Zornitza Stark Marked gene: B3GALNT2 as ready
Lissencephaly and Band Heterotopia v0.77 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.77 B3GALNT2 Zornitza Stark Phenotypes for gene: B3GALNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181
Lissencephaly and Band Heterotopia v0.76 B3GALNT2 Zornitza Stark Publications for gene: B3GALNT2 were set to
Lissencephaly and Band Heterotopia v0.75 B3GALNT2 Zornitza Stark Mode of inheritance for gene: B3GALNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.74 B3GALNT2 Zornitza Stark reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23453667; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.74 ARX Zornitza Stark Marked gene: ARX as ready
Lissencephaly and Band Heterotopia v0.74 ARX Zornitza Stark Gene: arx has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.74 ARX Zornitza Stark Phenotypes for gene: ARX were changed from to Lissencephaly, X-linked 2, MIM# 300215
Lissencephaly and Band Heterotopia v0.73 ARX Zornitza Stark Publications for gene: ARX were set to
Lissencephaly and Band Heterotopia v0.72 ARX Zornitza Stark Mode of inheritance for gene: ARX was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Lissencephaly and Band Heterotopia v0.71 ARX Zornitza Stark reviewed gene: ARX: Rating: GREEN; Mode of pathogenicity: None; Publications: 14722918; Phenotypes: Lissencephaly, X-linked 2, MIM# 300215; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Lissencephaly and Band Heterotopia v0.71 LAMA2 Zornitza Stark Phenotypes for gene: LAMA2 were changed from LAMA2-related muscular dystrophy to LAMA2-related muscular dystrophy; Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
Lissencephaly and Band Heterotopia v0.70 LAMA2 Zornitza Stark reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.70 KATNB1 Zornitza Stark Marked gene: KATNB1 as ready
Lissencephaly and Band Heterotopia v0.70 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.70 TUBGCP2 Zornitza Stark Marked gene: TUBGCP2 as ready
Lissencephaly and Band Heterotopia v0.70 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.70 SNAP29 Zornitza Stark Marked gene: SNAP29 as ready
Lissencephaly and Band Heterotopia v0.70 SNAP29 Zornitza Stark Gene: snap29 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.70 SNAP29 Zornitza Stark Phenotypes for gene: SNAP29 were changed from to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)
Lissencephaly and Band Heterotopia v0.69 SNAP29 Zornitza Stark Publications for gene: SNAP29 were set to
Lissencephaly and Band Heterotopia v0.68 SNAP29 Zornitza Stark Mode of inheritance for gene: SNAP29 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.67 SRD5A3 Zornitza Stark Marked gene: SRD5A3 as ready
Lissencephaly and Band Heterotopia v0.67 SRD5A3 Zornitza Stark Gene: srd5a3 has been classified as Red List (Low Evidence).
Lissencephaly and Band Heterotopia v0.67 SRD5A3 Zornitza Stark Phenotypes for gene: SRD5A3 were changed from to Congenital disorder of glycosylation, type Iq (MIM#612379)
Lissencephaly and Band Heterotopia v0.66 SRD5A3 Zornitza Stark Publications for gene: SRD5A3 were set to
Lissencephaly and Band Heterotopia v0.65 DCHS1 Seb Lunke Marked gene: DCHS1 as ready
Lissencephaly and Band Heterotopia v0.65 DCHS1 Seb Lunke Gene: dchs1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.65 DCHS1 Seb Lunke Classified gene: DCHS1 as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.65 DCHS1 Seb Lunke Gene: dchs1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.65 SRD5A3 Zornitza Stark Mode of inheritance for gene: SRD5A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.64 SRD5A3 Zornitza Stark Classified gene: SRD5A3 as Red List (low evidence)
Lissencephaly and Band Heterotopia v0.64 SRD5A3 Zornitza Stark Gene: srd5a3 has been classified as Red List (Low Evidence).
Lissencephaly and Band Heterotopia v0.63 NSDHL Zornitza Stark Marked gene: NSDHL as ready
Lissencephaly and Band Heterotopia v0.63 NSDHL Zornitza Stark Gene: nsdhl has been classified as Amber List (Moderate Evidence).
Lissencephaly and Band Heterotopia v0.63 NSDHL Zornitza Stark Classified gene: NSDHL as Amber List (moderate evidence)
Lissencephaly and Band Heterotopia v0.63 NSDHL Zornitza Stark Gene: nsdhl has been classified as Amber List (Moderate Evidence).
Lissencephaly and Band Heterotopia v0.62 OSGEP Zornitza Stark Marked gene: OSGEP as ready
Lissencephaly and Band Heterotopia v0.62 OSGEP Zornitza Stark Gene: osgep has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.62 OSGEP Zornitza Stark Classified gene: OSGEP as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.62 OSGEP Zornitza Stark Gene: osgep has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.61 CSNK2A1 Zornitza Stark Marked gene: CSNK2A1 as ready
Lissencephaly and Band Heterotopia v0.61 CSNK2A1 Zornitza Stark Gene: csnk2a1 has been classified as Amber List (Moderate Evidence).
Lissencephaly and Band Heterotopia v0.61 CSNK2A1 Zornitza Stark Classified gene: CSNK2A1 as Amber List (moderate evidence)
Lissencephaly and Band Heterotopia v0.61 CSNK2A1 Zornitza Stark Gene: csnk2a1 has been classified as Amber List (Moderate Evidence).
Lissencephaly and Band Heterotopia v0.60 SNAP29 Paul De Fazio changed review comment from: Associated with CEDNIK syndrome. Both pachygyria and polymicrogyria, and additionally dysgenesis of the corpus callosum, are reported in multiple patients from unrelated families with pathogenic variants in this gene (4 patients from 2 families with both pachygyria and polymicrogyria, and 5 patients from 3 families with polymicrogyria, in 12 patients from 5 families reviewed in PMID: 29051910).; to: Associated with CEDNIK syndrome. Both pachygyria and polymicrogyria, and additionally dysgenesis of the corpus callosum, are reported in multiple patients from unrelated families with pathogenic variants in this gene (at least 5 patients from 3 families with both pachygyria and polymicrogyria, and at least 5 patients from 3 families with polymicrogyria alone (PMID: 29051910, 30793783)).
Lissencephaly and Band Heterotopia v0.60 SNAP29 Paul De Fazio changed review comment from: Associated with CEDNIK syndrome. Both pachygyria and polymicrogyria, and additionally dysgenesis of the corpus callosum, are reported in multiple patients from 5 families with pathogenic variants in this gene (4 patients with pachygyria and 9 patients with polymicrogyria, in 12 patients from 5 families reviewed in PMID: 29051910).; to: Associated with CEDNIK syndrome. Both pachygyria and polymicrogyria, and additionally dysgenesis of the corpus callosum, are reported in multiple patients from unrelated families with pathogenic variants in this gene (4 patients from 2 families with both pachygyria and polymicrogyria, and 5 patients from 3 families with polymicrogyria, in 12 patients from 5 families reviewed in PMID: 29051910).
Lissencephaly and Band Heterotopia v0.60 SNAP29 Paul De Fazio changed review comment from: Associated with CEDNIK syndrome. Both pachygyria and polymicrogyria, and additionally dysgenesis of the corpus callosum, are reported in multiple unrelated patients with pathogenic variants in this gene (4 patients with pachygyria and 9 patients with polymicrogyria, in 12 patients reviewed in PMID: 29051910).; to: Associated with CEDNIK syndrome. Both pachygyria and polymicrogyria, and additionally dysgenesis of the corpus callosum, are reported in multiple patients from 5 families with pathogenic variants in this gene (4 patients with pachygyria and 9 patients with polymicrogyria, in 12 patients from 5 families reviewed in PMID: 29051910).
Lissencephaly and Band Heterotopia v0.60 SNAP29 Paul De Fazio reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: 29051910, 21073448, 30793783; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lissencephaly and Band Heterotopia v0.60 SRD5A3 Paul De Fazio changed review comment from: Associated with a CDG. Brain abnormalities reported include vermis hypoplasia, hypoplastic corpus callosum, cerebral atrophy. Polymicrogyria has been reported (2 individuals from the same family in PMID: 18271001), but lissencephaly or band heterotopia are not reported.; to: Associated with a CDG. Brain abnormalities reported include vermis hypoplasia, hypoplastic corpus callosum, cerebral atrophy. Polymicrogyria has been reported (2 individuals from the same family in PMID: 18271001), but lissencephaly or band heterotopia are not reported.

Not sure this gene should be on this panel. Have added to polymicrogyria panel instead.
Lissencephaly and Band Heterotopia v0.60 SRD5A3 Paul De Fazio reviewed gene: SRD5A3: Rating: RED; Mode of pathogenicity: None; Publications: 18271001, 20637498, 31638560, 27480077; Phenotypes: Congenital disorder of glycosylation, type Iq (MIM#612379); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lissencephaly and Band Heterotopia v0.60 DCHS1 Ain Roesley gene: DCHS1 was added
gene: DCHS1 was added to Lissencephaly and Band Heterotopia. Sources: Literature
Mode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCHS1 were set to 27262615; 22473091
Phenotypes for gene: DCHS1 were set to Van Maldergem syndrome 1 (MIM#601390)
Penetrance for gene: DCHS1 were set to unknown
Review for gene: DCHS1 was set to GREEN
Added comment: PMID: 27262615;
- cohort of 26x periventricular band heterotopias however 2x had additional phenotype of pachygyria
- 2nd cohort of 10x band heterotopias

PMID: 22473091;
- 1x patient with localised areas of cortical thickening and gyral simplification
Sources: Literature
Lissencephaly and Band Heterotopia v0.60 NSDHL Belinda Chong gene: NSDHL was added
gene: NSDHL was added to Lissencephaly and Band Heterotopia. Sources: Literature
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NSDHL were set to 19377476; 19842190; 21129721
Phenotypes for gene: NSDHL were set to CK syndrome 300831
Review for gene: NSDHL was set to AMBER
gene: NSDHL was marked as current diagnostic
Added comment: First described in 7 males from a five-generation family, 1-bp duplication p.(Lys232del) reported by Tarpey et al. (2009). PMID:19377476.

Second affected family, p.(Arg367SerFs*33) reported by Tarpey et al. (2009) and McLarren et al. (2010) (PMID:19842190; 21129721). Functional studies showed that both mutations in these families result in partial loss of the function of the NSDHL protein and cause a distinct phenotype characterized by intellectual disability, seizures, microcephaly, cerebral cortical malformations, minor facial anomalies, and thin body habitus.

Third described in five- generation family (missense -p.Gly152Asp) with affected males manifesting clinical features of CK syndrome. (https://doi.org/10.1002/ajmg.a.36999). Clinical feature described in the paper similar to CK syndrome however, no mention of cortical malformation, pachygyria, polymicrogyria, features mentioned in OMIM. But one affected male has a CT scan showing atrophic changes in the brain, internal hydrocephalus, and possible subependymal gray matter heterotopia. NB: Therefore, unsure if this is the third family hence leaving as Amber.
Sources: Literature
Lissencephaly and Band Heterotopia v0.60 OSGEP Naomi Baker changed review comment from: OSGEP mutations are associated with Galloway–Mowat syndrome, MIM#617729. Six Taiwanese patients, including two siblings, examined by either congenital MRI or cranial CT had pachygyria and hypomyelination (PMID:30558655).
Sources: Literature; to: OSGEP mutations are associated with Galloway–Mowat syndrome, MIM#617729. Six Taiwanese patients, including two siblings, examined by either congenital MRI or cranial CT had pachygyria and hypomyelination (PMID:30558655). Another reports describes OSGEP mutations in multiple individuals, with at least three reported as having pachygyria (PMID:28805828).
Sources: Literature
Lissencephaly and Band Heterotopia v0.60 OSGEP Naomi Baker gene: OSGEP was added
gene: OSGEP was added to Lissencephaly and Band Heterotopia. Sources: Literature
Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OSGEP were set to PMID: 30558655
Phenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, MIM#617729
Penetrance for gene: OSGEP were set to Complete
Review for gene: OSGEP was set to GREEN
Added comment: OSGEP mutations are associated with Galloway–Mowat syndrome, MIM#617729. Six Taiwanese patients, including two siblings, examined by either congenital MRI or cranial CT had pachygyria and hypomyelination (PMID:30558655).
Sources: Literature
Lissencephaly and Band Heterotopia v0.60 CSNK2A1 Ain Roesley gene: CSNK2A1 was added
gene: CSNK2A1 was added to Lissencephaly and Band Heterotopia. Sources: Literature
Mode of inheritance for gene: CSNK2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CSNK2A1 were set to 27048600; 29240241
Phenotypes for gene: CSNK2A1 were set to Okur-Chung neurodevelopmental syndrome (MIM#617062)
Penetrance for gene: CSNK2A1 were set to unknown
Review for gene: CSNK2A1 was set to AMBER
Added comment: PMID: 27048600;
- 5 unrelated patients
- 1x pachygyria + 1x simplified gyral cortication

PMID: 29240241;
- summary of reports thus far, no additional patients with cortical malformations

* all variants reported are de novo
Sources: Literature
Lissencephaly and Band Heterotopia v0.60 APC2 Zornitza Stark edited their review of gene: APC2: Changed rating: GREEN
Lissencephaly and Band Heterotopia v0.60 CRADD Zornitza Stark changed review comment from: At least 5 families reported though some were from the Pennsylvania Mennonite population, and had same founder variant (but at least 4 unique variants reported).; to: At least 5 families reported though some were from the Pennsylvania Mennonite population, and had same founder variant (but at least 4 unique variants reported). Brain imaging shows a mild variant of lissencephaly with anterior-predominant pachygyria with shallow and unusually wide sulci and mildly thickened cortex.
Lissencephaly and Band Heterotopia v0.60 CRADD Zornitza Stark Marked gene: CRADD as ready
Lissencephaly and Band Heterotopia v0.60 CRADD Zornitza Stark Gene: cradd has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.60 CRADD Zornitza Stark Phenotypes for gene: CRADD were changed from to Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499
Lissencephaly and Band Heterotopia v0.59 CRADD Zornitza Stark Publications for gene: CRADD were set to
Lissencephaly and Band Heterotopia v0.58 CRADD Zornitza Stark Mode of inheritance for gene: CRADD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.57 CRADD Zornitza Stark reviewed gene: CRADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 27773430; Phenotypes: Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.57 ASPM Zornitza Stark Marked gene: ASPM as ready
Lissencephaly and Band Heterotopia v0.57 ASPM Zornitza Stark Gene: aspm has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.57 ASPM Zornitza Stark Classified gene: ASPM as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.57 ASPM Zornitza Stark Gene: aspm has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.56 ACTG1 Zornitza Stark Marked gene: ACTG1 as ready
Lissencephaly and Band Heterotopia v0.56 ACTG1 Zornitza Stark Gene: actg1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.56 ACTG1 Zornitza Stark Phenotypes for gene: ACTG1 were changed from to Baraitser-Winter syndrome 2 (MIM#614583)
Lissencephaly and Band Heterotopia v0.55 ACTG1 Zornitza Stark Publications for gene: ACTG1 were set to
Lissencephaly and Band Heterotopia v0.54 ACTG1 Zornitza Stark Mode of inheritance for gene: ACTG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lissencephaly and Band Heterotopia v0.53 TMX2 Zornitza Stark Marked gene: TMX2 as ready
Lissencephaly and Band Heterotopia v0.53 TMX2 Zornitza Stark Gene: tmx2 has been classified as Amber List (Moderate Evidence).
Lissencephaly and Band Heterotopia v0.53 TMX2 Zornitza Stark Classified gene: TMX2 as Amber List (moderate evidence)
Lissencephaly and Band Heterotopia v0.53 TMX2 Zornitza Stark Gene: tmx2 has been classified as Amber List (Moderate Evidence).
Lissencephaly and Band Heterotopia v0.52 ASPM Ain Roesley gene: ASPM was added
gene: ASPM was added to Lissencephaly and Band Heterotopia. Sources: Literature
Mode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASPM were set to 18452193; 19332161; 19770472; 27250695
Phenotypes for gene: ASPM were set to Microcephaly 5, primary, autosomal recessive (MIM#608716)
Penetrance for gene: ASPM were set to unknown
Review for gene: ASPM was set to GREEN
Added comment: PMID: 18452193;
Consanguineous family with 2 affecteds with simplified pattern of gyration
- homozygous for a PTV

PMID: 19332161;
- consanguineous Algerian family in which 3/5 affecteds presented with simplified cortical gyration
- cHet for 2 PTVs

PMID: 19770472;
- 11 families with 16 affecteds
- 9/12 affecteds have simplified frontal and/or occipital gyral pattern
- All PTVs reported

PMID: 27250695;
- 15 families with 21 affecteds
- 4 had coarse gyri and 8 had simplified gyral pattern
- all PTVs
Sources: Literature
Lissencephaly and Band Heterotopia v0.52 ACTB Zornitza Stark Marked gene: ACTB as ready
Lissencephaly and Band Heterotopia v0.52 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.52 ACTB Zornitza Stark Phenotypes for gene: ACTB were changed from to Baraitser-Winter syndrome 1 (MIM#243310)
Lissencephaly and Band Heterotopia v0.51 ACTB Zornitza Stark Publications for gene: ACTB were set to
Lissencephaly and Band Heterotopia v0.50 ACTB Zornitza Stark Mode of inheritance for gene: ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lissencephaly and Band Heterotopia v0.49 VLDLR Zornitza Stark Marked gene: VLDLR as ready
Lissencephaly and Band Heterotopia v0.49 VLDLR Zornitza Stark Gene: vldlr has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.49 VLDLR Zornitza Stark Phenotypes for gene: VLDLR were changed from to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 (MIM#224050)
Lissencephaly and Band Heterotopia v0.48 VLDLR Zornitza Stark Publications for gene: VLDLR were set to
Lissencephaly and Band Heterotopia v0.47 VLDLR Zornitza Stark Mode of inheritance for gene: VLDLR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.46 ACTG1 Ain Roesley reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29671837, 27240540, 25052316; Phenotypes: Baraitser-Winter syndrome 2 (MIM#614583); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Lissencephaly and Band Heterotopia v0.46 TMX2 Paul De Fazio gene: TMX2 was added
gene: TMX2 was added to Lissencephaly and Band Heterotopia. Sources: Literature
Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMX2 were set to 31735293; 31586943
Phenotypes for gene: TMX2 were set to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730
Review for gene: TMX2 was set to AMBER
gene: TMX2 was marked as current diagnostic
Added comment: Summary: 14 families reported with biallelic variants and neurodevelopmental disorder, but individuals from 5 families had pachygyria/lissencephaly, and 4 of those families shared the same variant.

PMID 31735293: 2 unrelated individuals (out of 14 total from 10 families) with biallelic variants had pachygyria on MRI. Other individuals had brain atrophy or polymicrogyria. One individual had a normal MRI.

PMID 31586943: 8 individuals from 4 families had the same homozygous missense variant (10 heterozygotes in gnomAD.). All of the individuals had lissencephaly. This variant was also identified in one individual from PMID 31735293, who had polymicrogyria.
Sources: Literature
Lissencephaly and Band Heterotopia v0.46 ACTB Ain Roesley reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29671837, 22366783; Phenotypes: Baraitser-Winter syndrome 1 (MIM#243310); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Lissencephaly and Band Heterotopia v0.46 VLDLR Paul De Fazio reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 16080122, 18364738, 18326629, 22700954, 22973972; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 (MIM#224050); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lissencephaly and Band Heterotopia v0.46 B3GNT2 Zornitza Stark Phenotypes for gene: B3GNT2 were changed from to Muscular dystrophy-dystroglycanopathy
Lissencephaly and Band Heterotopia v0.45 B3GNT2 Zornitza Stark Publications for gene: B3GNT2 were set to
Lissencephaly and Band Heterotopia v0.44 B3GNT2 Zornitza Stark Mode of inheritance for gene: B3GNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.43 B3GNT2 Zornitza Stark edited their review of gene: B3GNT2: Added comment: Gene previously known as B3GNT1. Two families reported. In one family, the brain phenotype was that of anencephaly, and in the second family cobblestone lishencephaly was reported.; Changed publications: 23359570, 23877401; Changed phenotypes: Muscular dystrophy-dystroglycanopathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.43 Bryony Thompson Panel types changed to Australian Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Lissencephaly and Band Heterotopia v0.42 LAMA2 Zornitza Stark Marked gene: LAMA2 as ready
Lissencephaly and Band Heterotopia v0.42 LAMA2 Zornitza Stark Gene: lama2 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.42 LAMA2 Zornitza Stark Phenotypes for gene: LAMA2 were changed from to LAMA2-related muscular dystrophy
Lissencephaly and Band Heterotopia v0.41 LAMA2 Zornitza Stark Publications for gene: LAMA2 were set to
Lissencephaly and Band Heterotopia v0.40 LAMA2 Zornitza Stark Mode of inheritance for gene: LAMA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.39 LAMA2 Lauren Akesson reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20207543, 18406646; Phenotypes: LAMA2-related muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.39 GMPPB Zornitza Stark Marked gene: GMPPB as ready
Lissencephaly and Band Heterotopia v0.39 GMPPB Zornitza Stark Gene: gmppb has been classified as Amber List (Moderate Evidence).
Lissencephaly and Band Heterotopia v0.39 GMPPB Zornitza Stark Phenotypes for gene: GMPPB were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352)
Lissencephaly and Band Heterotopia v0.38 GMPPB Zornitza Stark Publications for gene: GMPPB were set to
Lissencephaly and Band Heterotopia v0.37 GMPPB Zornitza Stark Mode of inheritance for gene: GMPPB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.36 GMPPB Zornitza Stark Classified gene: GMPPB as Amber List (moderate evidence)
Lissencephaly and Band Heterotopia v0.36 GMPPB Zornitza Stark Gene: gmppb has been classified as Amber List (Moderate Evidence).
Lissencephaly and Band Heterotopia v0.35 GMPPB Lauren Akesson reviewed gene: GMPPB: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 23768512, 30257713, 26310427, 24780531; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350), Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 (MIM# 615351), Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.35 CDK5 Zornitza Stark Marked gene: CDK5 as ready
Lissencephaly and Band Heterotopia v0.35 CDK5 Zornitza Stark Gene: cdk5 has been classified as Red List (Low Evidence).
Lissencephaly and Band Heterotopia v0.35 CDK5 Zornitza Stark gene: CDK5 was added
gene: CDK5 was added to Lissencephaly and Band Heterotopia. Sources: Expert list
Mode of inheritance for gene: CDK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK5 were set to 25560765
Phenotypes for gene: CDK5 were set to Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342
Review for gene: CDK5 was set to RED
Added comment: Single consanguineous family with multiple affected individuals reported, lissencephaly prominent.
Sources: Expert list
Lissencephaly and Band Heterotopia v0.34 B4GAT1 Zornitza Stark Marked gene: B4GAT1 as ready
Lissencephaly and Band Heterotopia v0.34 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.34 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to 23359570; 23877401
Lissencephaly and Band Heterotopia v0.34 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.34 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.33 B4GAT1 Zornitza Stark reviewed gene: B4GAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23359570, 23877401, 23359570, 23217742; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.33 B4GAT1 Zornitza Stark Phenotypes for gene: B4GAT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287
Lissencephaly and Band Heterotopia v0.32 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to
Lissencephaly and Band Heterotopia v0.31 B4GAT1 Zornitza Stark Mode of inheritance for gene: B4GAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.30 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Amber List (moderate evidence)
Lissencephaly and Band Heterotopia v0.30 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Lissencephaly and Band Heterotopia v0.29 B4GAT1 Lauren Akesson changed review comment from: Two families with variants in this gene have been described with insufficient information to be green:

PMID 23359570 - four affected siblings (three pregnancies terminated) from a non-consanguineous family. Brain findings included diffuse, severe and extensive leptominingeal neuroepithelial heterotopia, cerebellar dysplasia/hypoplasia, brainstem hypoplasia, lissencephaly, corpus callosum abnormalities. Three of the four probands were genotyped and found to have two homozygous missense variants in B4GAT1. Parents were each heterozygous for both variants. Three siblings were unaffected of which one was heterozygous for both variants and the other two untested.

PMID 23877401 - seven affected children from a consanguineous extended family (two arms of the family). Features include occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis; multicystic kidney, hydrocephalus, developmental delay, seizures, agenesis of the optic nerve. One individual only received genetic testing with a homozygous frameshift variant in B4GAT1.; to: Two families with variants in this gene have been described with insufficient evidence to be green:

PMID 23359570 - four affected siblings (three pregnancies terminated) from a non-consanguineous family. Brain findings included diffuse, severe and extensive leptominingeal neuroepithelial heterotopia, cerebellar dysplasia/hypoplasia, brainstem hypoplasia, lissencephaly, corpus callosum abnormalities. Three of the four probands were genotyped and found to have two homozygous missense variants in B4GAT1. Parents were each heterozygous for both variants. Three siblings were unaffected of which one was heterozygous for both variants and the other two untested.

PMID 23877401 - seven affected children from a consanguineous extended family (two arms of the family). Features include occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis; multicystic kidney, hydrocephalus, developmental delay, seizures, agenesis of the optic nerve. One individual only received genetic testing with a homozygous frameshift variant in B4GAT1.
Lissencephaly and Band Heterotopia v0.29 B4GAT1 Lauren Akesson changed review comment from: Two families with variants in this gene have been described with insufficient information to be green:

PMID 23359570 - four affected siblings (three pregnancies terminated) from a non-consanguineous family. Brain findings included diffuse, severe and extensive leptominingeal neuroepithelial heterotopia, cerebellar dysplasia/hypoplasia, brainstem hypoplasia, lissencephaly, corpus callosum abnormalities. Three of the four probands were genotyped and found to have two homozygous missense variants in B4GAT1. Parents were each heterozygous for both variants. Three siblings were unaffected of which one was heterozygous for both variants and the other two untested.

PMID 23877401 - seven affected siblings from a consanguineous family (two arms). Features include occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis; multicystic kidney, hydrocephalus, developmental delay, seizures, agenesis of the optic nerve. One individual was tested with a homozygous frameshift variant in B4GAT1.; to: Two families with variants in this gene have been described with insufficient information to be green:

PMID 23359570 - four affected siblings (three pregnancies terminated) from a non-consanguineous family. Brain findings included diffuse, severe and extensive leptominingeal neuroepithelial heterotopia, cerebellar dysplasia/hypoplasia, brainstem hypoplasia, lissencephaly, corpus callosum abnormalities. Three of the four probands were genotyped and found to have two homozygous missense variants in B4GAT1. Parents were each heterozygous for both variants. Three siblings were unaffected of which one was heterozygous for both variants and the other two untested.

PMID 23877401 - seven affected children from a consanguineous extended family (two arms of the family). Features include occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis; multicystic kidney, hydrocephalus, developmental delay, seizures, agenesis of the optic nerve. One individual only received genetic testing with a homozygous frameshift variant in B4GAT1.
Lissencephaly and Band Heterotopia v0.29 B4GAT1 Lauren Akesson reviewed gene: B4GAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 23359570, 23877401; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287; Mode of inheritance: None
Lissencephaly and Band Heterotopia v0.29 NDE1 Zornitza Stark Marked gene: NDE1 as ready
Lissencephaly and Band Heterotopia v0.29 NDE1 Zornitza Stark Gene: nde1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.29 NDE1 Zornitza Stark Phenotypes for gene: NDE1 were changed from to Microhydranencephaly 605013; Lissencephaly 4 (with microcephaly) 614019
Lissencephaly and Band Heterotopia v0.28 NDE1 Zornitza Stark Publications for gene: NDE1 were set to
Lissencephaly and Band Heterotopia v0.27 NDE1 Zornitza Stark Mode of inheritance for gene: NDE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.26 NDE1 Zornitza Stark reviewed gene: NDE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30637988; Phenotypes: Microhydranencephaly 605013, Lissencephaly 4 (with microcephaly) 614019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.26 CEP85L Zornitza Stark Marked gene: CEP85L as ready
Lissencephaly and Band Heterotopia v0.26 CEP85L Zornitza Stark Gene: cep85l has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.26 CEP85L Zornitza Stark Classified gene: CEP85L as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.26 CEP85L Zornitza Stark Gene: cep85l has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.25 CEP85L Zornitza Stark gene: CEP85L was added
gene: CEP85L was added to Lissencephaly and Band Heterotopia. Sources: Literature
Mode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CEP85L were set to 32097630
Phenotypes for gene: CEP85L were set to Lissencephaly, posterior predominant
Review for gene: CEP85L was set to GREEN
Added comment: Thirteen individuals reported with mono allelic variants in this gene, inherited in two of the families. Mouse model had neuronal migration defects.
Sources: Literature
Lissencephaly and Band Heterotopia v0.24 EML1 Zornitza Stark Marked gene: EML1 as ready
Lissencephaly and Band Heterotopia v0.24 EML1 Zornitza Stark Gene: eml1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.24 EML1 Zornitza Stark Phenotypes for gene: EML1 were changed from to Band heterotopia (MIM# 600348)
Lissencephaly and Band Heterotopia v0.23 EML1 Zornitza Stark Publications for gene: EML1 were set to
Lissencephaly and Band Heterotopia v0.22 EML1 Zornitza Stark Mode of inheritance for gene: EML1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.21 EML1 Zornitza Stark reviewed gene: EML1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31710781; Phenotypes: Band heterotopia (MIM# 600348); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.21 TUBA1A Zornitza Stark Marked gene: TUBA1A as ready
Lissencephaly and Band Heterotopia v0.21 TUBA1A Zornitza Stark Gene: tuba1a has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.21 TUBA1A Zornitza Stark Publications for gene: TUBA1A were set to
Lissencephaly and Band Heterotopia v0.20 TUBA1A Zornitza Stark Phenotypes for gene: TUBA1A were changed from to Lissencephaly 3, MIM#611603
Lissencephaly and Band Heterotopia v0.19 TUBA1A Zornitza Stark Mode of pathogenicity for gene: TUBA1A was changed from to Other
Lissencephaly and Band Heterotopia v0.18 TUBA1A Zornitza Stark Mode of inheritance for gene: TUBA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lissencephaly and Band Heterotopia v0.17 TUBA1A Elena Savva reviewed gene: TUBA1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 30517687, 20466733; Phenotypes: Lissencephaly 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lissencephaly and Band Heterotopia v0.17 MACF1 Zornitza Stark Marked gene: MACF1 as ready
Lissencephaly and Band Heterotopia v0.17 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.17 MACF1 Zornitza Stark Classified gene: MACF1 as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.17 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.16 MACF1 Zornitza Stark Classified gene: MACF1 as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.16 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.15 MACF1 Zornitza Stark gene: MACF1 was added
gene: MACF1 was added to Lissencephaly and Band Heterotopia. Sources: Expert list
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MIM# 618325
Mode of pathogenicity for gene: MACF1 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: MACF1 was set to GREEN
Added comment: Nine individuals (including a pair of twins) reported with de novo variants in this gene, seizures a consistent feature.
Sources: Expert list
Lissencephaly and Band Heterotopia v0.14 KATNB1 Zornitza Stark Classified gene: KATNB1 as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.14 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.13 KATNB1 Zornitza Stark gene: KATNB1 was added
gene: KATNB1 was added to Lissencephaly and Band Heterotopia. Sources: Expert list
Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KATNB1 were set to 25521378; 25521379; 26640080
Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly, MIM# 616212
Review for gene: KATNB1 was set to GREEN
Added comment: At least 9 families reported with bi-allelic variants in this gene.
Sources: Expert list
Lissencephaly and Band Heterotopia v0.12 TUBGCP2 Zornitza Stark Classified gene: TUBGCP2 as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.12 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.11 TUBGCP2 Zornitza Stark gene: TUBGCP2 was added
gene: TUBGCP2 was added to Lissencephaly and Band Heterotopia. Sources: Literature
Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP2 were set to 31630790
Phenotypes for gene: TUBGCP2 were set to Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability
Review for gene: TUBGCP2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Lissencephaly and Band Heterotopia v0.10 Zornitza Stark Panel types changed to Australian Genomics; Victorian Clinical Genetics Services; Rare Disease
Lissencephaly and Band Heterotopia v0.9 Zornitza Stark Panel name changed from Lissencephaly and band heterotopia to Lissencephaly and Band Heterotopia
Lissencephaly and Band Heterotopia v0.8 Zornitza Stark Panel name changed from Lissencephaly and band heterotopia_AustralianGenomics_VCGS to Lissencephaly and band heterotopia
Panel types changed to Victorian Clinical Genetics Services; Australian Genomics
Lissencephaly and Band Heterotopia v0.7 APC2 Zornitza Stark Marked gene: APC2 as ready
Lissencephaly and Band Heterotopia v0.7 APC2 Zornitza Stark Gene: apc2 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.7 APC2 Zornitza Stark Classified gene: APC2 as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.7 APC2 Zornitza Stark Gene: apc2 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.6 APC2 Zornitza Stark gene: APC2 was added
gene: APC2 was added to Lissencephaly and band heterotopia_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APC2 were set to 31585108
Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10, MIM#618677
Added comment: 12 individuals from 8 unrelated families; intellectual disability, seizures, cortical dysplasia including posterior to anterior predominant pattern of lissencephaly, heterotopias, paucity of white matter, thin corpus callosum.
Sources: Literature
Lissencephaly and Band Heterotopia v0.5 CTNNA2 Zornitza Stark Marked gene: CTNNA2 as ready
Lissencephaly and Band Heterotopia v0.5 CTNNA2 Zornitza Stark Gene: ctnna2 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.5 CTNNA2 Zornitza Stark Phenotypes for gene: CTNNA2 were changed from to Cortical dysplasia, complex, with other brain malformations 9, MIM#618174
Lissencephaly and Band Heterotopia v0.4 CTNNA2 Zornitza Stark Publications for gene: CTNNA2 were set to
Lissencephaly and Band Heterotopia v0.3 CTNNA2 Zornitza Stark Mode of inheritance for gene: CTNNA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.2 CTNNA2 Zornitza Stark reviewed gene: CTNNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30013181; Phenotypes: Cortical dysplasia, complex, with other brain malformations 9, MIM#618174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.2 B3GNT2 Zornitza Stark Marked gene: B3GNT2 as ready
Lissencephaly and Band Heterotopia v0.2 B3GNT2 Zornitza Stark Gene: b3gnt2 has been classified as Red List (Low Evidence).
Lissencephaly and Band Heterotopia v0.2 B3GNT2 Zornitza Stark Classified gene: B3GNT2 as Red List (low evidence)
Lissencephaly and Band Heterotopia v0.2 B3GNT2 Zornitza Stark Gene: b3gnt2 has been classified as Red List (Low Evidence).
Lissencephaly and Band Heterotopia v0.1 B3GNT2 Zornitza Stark reviewed gene: B3GNT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Lissencephaly and Band Heterotopia v0.1 Zornitza Stark Panel name changed from Lissencephaly and band heterotopia_AGHA_VCGS to Lissencephaly and band heterotopia_AustralianGenomics_VCGS
Lissencephaly and Band Heterotopia v0.0 VLDLR Zornitza Stark gene: VLDLR was added
gene: VLDLR was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: VLDLR was set to Unknown
Lissencephaly and Band Heterotopia v0.0 TUBA1A Zornitza Stark gene: TUBA1A was added
gene: TUBA1A was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TUBA1A was set to Unknown
Lissencephaly and Band Heterotopia v0.0 SRD5A3 Zornitza Stark gene: SRD5A3 was added
gene: SRD5A3 was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SRD5A3 was set to Unknown
Lissencephaly and Band Heterotopia v0.0 SNAP29 Zornitza Stark gene: SNAP29 was added
gene: SNAP29 was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SNAP29 was set to Unknown
Lissencephaly and Band Heterotopia v0.0 TMEM5 Zornitza Stark gene: TMEM5 was added
gene: TMEM5 was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TMEM5 was set to Unknown
Lissencephaly and Band Heterotopia v0.0 RELN Zornitza Stark gene: RELN was added
gene: RELN was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: RELN was set to Unknown
Lissencephaly and Band Heterotopia v0.0 PAFAH1B1 Zornitza Stark gene: PAFAH1B1 was added
gene: PAFAH1B1 was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PAFAH1B1 was set to Unknown
Lissencephaly and Band Heterotopia v0.0 NDE1 Zornitza Stark gene: NDE1 was added
gene: NDE1 was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: NDE1 was set to Unknown
Lissencephaly and Band Heterotopia v0.0 LARGE1 Zornitza Stark gene: LARGE1 was added
gene: LARGE1 was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LARGE1 was set to Unknown
Lissencephaly and Band Heterotopia v0.0 LAMB1 Zornitza Stark gene: LAMB1 was added
gene: LAMB1 was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LAMB1 was set to Unknown
Lissencephaly and Band Heterotopia v0.0 LAMA2 Zornitza Stark gene: LAMA2 was added
gene: LAMA2 was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LAMA2 was set to Unknown
Lissencephaly and Band Heterotopia v0.0 KIF5C Zornitza Stark gene: KIF5C was added
gene: KIF5C was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: KIF5C was set to Unknown
Lissencephaly and Band Heterotopia v0.0 KIF2A Zornitza Stark gene: KIF2A was added
gene: KIF2A was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: KIF2A was set to Unknown
Lissencephaly and Band Heterotopia v0.0 ISPD Zornitza Stark gene: ISPD was added
gene: ISPD was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ISPD was set to Unknown
Lissencephaly and Band Heterotopia v0.0 GMPPB Zornitza Stark gene: GMPPB was added
gene: GMPPB was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: GMPPB was set to Unknown
Lissencephaly and Band Heterotopia v0.0 EML1 Zornitza Stark gene: EML1 was added
gene: EML1 was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: EML1 was set to Unknown
Lissencephaly and Band Heterotopia v0.0 DYNC1H1 Zornitza Stark gene: DYNC1H1 was added
gene: DYNC1H1 was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: DYNC1H1 was set to Unknown
Lissencephaly and Band Heterotopia v0.0 DCX Zornitza Stark gene: DCX was added
gene: DCX was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: DCX was set to Unknown
Lissencephaly and Band Heterotopia v0.0 CTNNA2 Zornitza Stark gene: CTNNA2 was added
gene: CTNNA2 was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CTNNA2 was set to Unknown
Lissencephaly and Band Heterotopia v0.0 CRADD Zornitza Stark gene: CRADD was added
gene: CRADD was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CRADD was set to Unknown
Lissencephaly and Band Heterotopia v0.0 B4GAT1 Zornitza Stark gene: B4GAT1 was added
gene: B4GAT1 was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: B4GAT1 was set to Unknown
Lissencephaly and Band Heterotopia v0.0 B3GNT2 Zornitza Stark gene: B3GNT2 was added
gene: B3GNT2 was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: B3GNT2 was set to Unknown
Lissencephaly and Band Heterotopia v0.0 B3GALNT2 Zornitza Stark gene: B3GALNT2 was added
gene: B3GALNT2 was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: B3GALNT2 was set to Unknown
Lissencephaly and Band Heterotopia v0.0 ARX Zornitza Stark gene: ARX was added
gene: ARX was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ARX was set to Unknown
Lissencephaly and Band Heterotopia v0.0 ACTG1 Zornitza Stark gene: ACTG1 was added
gene: ACTG1 was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ACTG1 was set to Unknown
Lissencephaly and Band Heterotopia v0.0 ACTB Zornitza Stark gene: ACTB was added
gene: ACTB was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ACTB was set to Unknown
Lissencephaly and Band Heterotopia v0.0 Zornitza Stark Added panel Lissencephaly and band heterotopia_AGHA_VCGS