| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pierre Robin Sequence v0.47 | PLCB4 | Zornitza Stark edited their review of gene: PLCB4: Changed phenotypes: Auriculocondylar syndrome 2A, MIM# 614669, Auriculocondylar syndrome 2B, MIM# 620458 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.47 | PLCB4 | Zornitza Stark Phenotypes for gene: PLCB4 were changed from Auriculocondylar syndrome 2, MIM# 614669 to Auriculocondylar syndrome 2A, MIM# 614669; Auriculocondylar syndrome 2B, MIM# 620458 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.46 | ARCN1 | Zornitza Stark Marked gene: ARCN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.46 | ARCN1 | Zornitza Stark Gene: arcn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.46 | ARCN1 | Zornitza Stark Classified gene: ARCN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.46 | ARCN1 | Zornitza Stark Gene: arcn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.45 | ARCN1 |
Zornitza Stark gene: ARCN1 was added gene: ARCN1 was added to Pierre Robin Sequence. Sources: Expert Review Mode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARCN1 were set to 35300924 Phenotypes for gene: ARCN1 were set to Short stature-micrognathia syndrome, MIM# 617164 Review for gene: ARCN1 was set to GREEN Added comment: Significant PRS requiring surgical management is a feature. Sources: Expert Review |
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| Pierre Robin Sequence v0.44 |
Zornitza Stark HPO terms changed from to Pierre Robin sequence, HP:0000201 List of related panels changed from to Pierre Robin sequence; HP:0000201 |
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| Pierre Robin Sequence v0.43 | KIF15 | Alison Yeung Marked gene: KIF15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.43 | KIF15 | Alison Yeung Gene: kif15 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.43 | KIF15 | Alison Yeung Phenotypes for gene: KIF15 were changed from ?Braddock-Carey syndrome 2 - MIM#619981 to Braddock-Carey syndrome 2 - MIM#619981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.42 | KIF15 | Alison Yeung Classified gene: KIF15 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.42 | KIF15 | Alison Yeung Gene: kif15 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.41 | KIF15 |
Krithika Murali gene: KIF15 was added gene: KIF15 was added to Pierre Robin Sequence. Sources: Literature Mode of inheritance for gene: KIF15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF15 were set to 28150392 Phenotypes for gene: KIF15 were set to ?Braddock-Carey syndrome 2 - MIM#619981 Review for gene: KIF15 was set to AMBER Added comment: PMID 28150392 Sleiman et al 2017 report one individual with homozygous R501* variant (NMD-predicted) from a consanguineous family. The child had thrombocytopenia, PRS, microcephaly -3SD by age 6, dysmorphic facies, bilateral external auditory canal atresia and deafness, microphthalmia, clinodactyly, short stature. Variant absent from gnomAD. Parents confirmed to be carriers and unaffected siblings were carriers/homozygous wild-type. No other SNVs reported in ClinVar. Variant is absent from gnomAD. Authors note phenotypic similarities with Braddock-Carey syndrome (21q22 contiguous deletion also involving RUNX1). Sources: Literature |
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| Pierre Robin Sequence v0.41 | EIF4A3 | Zornitza Stark Tag STR tag was added to gene: EIF4A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.41 | EDNRA | Zornitza Stark Marked gene: EDNRA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.41 | EDNRA | Zornitza Stark Gene: ednra has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.41 | EDNRA | Zornitza Stark Phenotypes for gene: EDNRA were changed from to Mandibulofacial dysostosis with alopecia, MIM# 616367 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.40 | EDNRA | Zornitza Stark Publications for gene: EDNRA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.39 | EDNRA | Zornitza Stark Mode of inheritance for gene: EDNRA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.38 | EDNRA | Zornitza Stark reviewed gene: EDNRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25772936, 27671791; Phenotypes: Mandibulofacial dysostosis with alopecia, MIM# 616367; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.38 | PLCB4 | Zornitza Stark Marked gene: PLCB4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.38 | PLCB4 | Zornitza Stark Gene: plcb4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.38 | PLCB4 | Zornitza Stark Phenotypes for gene: PLCB4 were changed from to Auriculocondylar syndrome 2, MIM# 614669 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.37 | PLCB4 | Zornitza Stark Publications for gene: PLCB4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.36 | PLCB4 | Zornitza Stark Mode of inheritance for gene: PLCB4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.35 | PLCB4 | Zornitza Stark reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22560091, 23315542, 33131036, 32201334, 28328130, 27007857, 23913798; Phenotypes: Auriculocondylar syndrome 2, MIM# 614669; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.35 | EIF4A3 | Zornitza Stark Marked gene: EIF4A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.35 | EIF4A3 | Zornitza Stark Gene: eif4a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.35 | EIF4A3 | Zornitza Stark Phenotypes for gene: EIF4A3 were changed from to Robin sequence with cleft mandible and limb anomalies, MIM# 268305; Richieri-Costa-Pereira syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.34 | EIF4A3 | Zornitza Stark Publications for gene: EIF4A3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.33 | EIF4A3 | Zornitza Stark Mode of inheritance for gene: EIF4A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.32 | EIF4A3 | Zornitza Stark reviewed gene: EIF4A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360810; Phenotypes: Robin sequence with cleft mandible and limb anomalies, MIM# 268305, Richieri-Costa-Pereira syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.32 | IGF2 | Zornitza Stark Marked gene: IGF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.32 | IGF2 | Zornitza Stark Gene: igf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.32 | IGF2 | Zornitza Stark Classified gene: IGF2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.32 | IGF2 | Zornitza Stark Gene: igf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.31 | IGF2 |
Elena Savva gene: IGF2 was added gene: IGF2 was added to Pierre Robin Sequence. Sources: Literature Mode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: IGF2 were set to PMID: 31544945 Phenotypes for gene: IGF2 were set to Silver-Russell syndrome 3 MIM#616489 Review for gene: IGF2 was set to GREEN Added comment: PMID: 31544945 - micrognathia (100%, 8 families) and cleft palate (43%, 6/14 families) both reported in patients with SRS Sources: Literature |
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| Pierre Robin Sequence v0.31 | SATB2 | Zornitza Stark Marked gene: SATB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.31 | SATB2 | Zornitza Stark Gene: satb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.31 | SATB2 | Zornitza Stark Phenotypes for gene: SATB2 were changed from to Glass syndrome, MIM# 612313; MONDO:0100147 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.30 | SATB2 | Zornitza Stark Publications for gene: SATB2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.29 | SATB2 | Zornitza Stark Mode of inheritance for gene: SATB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.28 | SATB2 | Zornitza Stark reviewed gene: SATB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29023086, 28151491, 32446642; Phenotypes: Glass syndrome, MIM# 612313, MONDO:0100147; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.28 | EDN1 | Zornitza Stark Marked gene: EDN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.28 | EDN1 | Zornitza Stark Gene: edn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.28 | EDN1 | Zornitza Stark Phenotypes for gene: EDN1 were changed from to Auriculocondylar syndrome 3, MIM# 615706 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.27 | EDN1 | Zornitza Stark Publications for gene: EDN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.26 | EDN1 | Zornitza Stark Mode of inheritance for gene: EDN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.25 | EDN1 | Zornitza Stark Mode of inheritance for gene: EDN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.25 | EDN1 | Zornitza Stark Classified gene: EDN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.25 | EDN1 | Zornitza Stark Gene: edn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.24 | EDN1 | Zornitza Stark reviewed gene: EDN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23315542, 23913798, 24268655; Phenotypes: Auriculocondylar syndrome 3, MIM# 615706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.24 | DHODH | Zornitza Stark Marked gene: DHODH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.24 | DHODH | Zornitza Stark Gene: dhodh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.24 | DHODH | Zornitza Stark Phenotypes for gene: DHODH were changed from to Miller syndrome, MIM# 263750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.23 | DHODH | Zornitza Stark Publications for gene: DHODH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.22 | DHODH | Zornitza Stark Mode of inheritance for gene: DHODH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.21 | DHODH | Zornitza Stark reviewed gene: DHODH: Rating: GREEN; Mode of pathogenicity: None; Publications: 19915526, 20220176, 33262786, 27370710; Phenotypes: Miller syndrome, MIM# 263750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.21 | ALX4 | Zornitza Stark Phenotypes for gene: ALX4 were changed from to Frontonasal dysplasia 2, MIM# 613451; FND2 with alopecia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.20 | ALX4 | Zornitza Stark Publications for gene: ALX4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.19 | ALX4 | Zornitza Stark Mode of inheritance for gene: ALX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.18 | ALX4 | Zornitza Stark reviewed gene: ALX4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontonasal dysplasia 2, MIM# 613451; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.18 | ALX4 | Tiong Tan Marked gene: ALX4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.18 | ALX4 | Tiong Tan Gene: alx4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.18 | ALX4 | Tiong Tan Classified gene: ALX4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.18 | ALX4 | Tiong Tan Gene: alx4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.17 | ALX4 | Tiong Tan reviewed gene: ALX4: Rating: AMBER; Mode of pathogenicity: None; Publications: 24668755, 22140057, 19692347; Phenotypes: FRONTONASAL DYSPLASIA 2, FND2 with alopecia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.17 | ALX3 | Tiong Tan Classified gene: ALX3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.17 | ALX3 | Tiong Tan Gene: alx3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.17 | ALX3 | Tiong Tan Classified gene: ALX3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.17 | ALX3 | Tiong Tan Gene: alx3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.16 | ALX3 | Tiong Tan Marked gene: ALX3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.16 | ALX3 | Tiong Tan Gene: alx3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.16 | ALX3 | Tiong Tan reviewed gene: ALX3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: frontorhiny; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.16 | TSR2 | Zornitza Stark Marked gene: TSR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.16 | TSR2 | Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.16 | TSR2 | Zornitza Stark Phenotypes for gene: TSR2 were changed from to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.15 | TSR2 | Zornitza Stark Publications for gene: TSR2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.14 | TSR2 | Zornitza Stark Mode of inheritance for gene: TSR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.13 | TSR2 | Zornitza Stark Classified gene: TSR2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.13 | TSR2 | Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.12 | TSR2 | Zornitza Stark reviewed gene: TSR2: Rating: RED; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.12 | RPS28 | Zornitza Stark Marked gene: RPS28 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.12 | RPS28 | Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.12 | RPS28 | Zornitza Stark Phenotypes for gene: RPS28 were changed from to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.11 | RPS28 | Zornitza Stark Publications for gene: RPS28 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.10 | RPS28 | Zornitza Stark Mode of inheritance for gene: RPS28 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.9 | RPS28 | Zornitza Stark Classified gene: RPS28 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.9 | RPS28 | Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.8 | RPS28 | Zornitza Stark reviewed gene: RPS28: Rating: AMBER; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.8 | BMPR1B | Zornitza Stark Classified gene: BMPR1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.8 | BMPR1B | Zornitza Stark Gene: bmpr1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.7 | BMPR1B | Tiong Tan Marked gene: BMPR1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.7 | BMPR1B | Tiong Tan Gene: bmpr1b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.7 | BMPR1B |
Tiong Tan gene: BMPR1B was added gene: BMPR1B was added to Pierre Robin Sequence. Sources: Literature Mode of inheritance for gene: BMPR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BMPR1B were set to 28418932 Phenotypes for gene: BMPR1B were set to PRS; pectus excavatum; radioulnar synostosis Penetrance for gene: BMPR1B were set to unknown Review for gene: BMPR1B was set to AMBER Added comment: Two unrelated families reported with lesions predicted to affect BMPR1B: translocation with deletion of two genes one of which was BMPR1B and a canonical splice site variant. Both genomic lesions segregated with the PRS phenotype in both families. Sources: Literature |
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| Pierre Robin Sequence v0.6 | TCOF1 | Zornitza Stark Marked gene: TCOF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.6 | TCOF1 | Zornitza Stark Gene: tcof1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.6 | TCOF1 | Zornitza Stark Phenotypes for gene: TCOF1 were changed from to Treacher Collins syndrome 1, MIM# 154500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.5 | TCOF1 | Zornitza Stark Publications for gene: TCOF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.4 | TCOF1 | Zornitza Stark Mode of inheritance for gene: TCOF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.3 | TCOF1 | Zornitza Stark reviewed gene: TCOF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12444270, 15150774, 21951868; Phenotypes: Treacher Collins syndrome 1, MIM# 154500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.3 | POLR1B | Zornitza Stark Marked gene: POLR1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.3 | POLR1B | Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.3 | POLR1B | Zornitza Stark Classified gene: POLR1B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.3 | POLR1B | Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.2 | POLR1B |
Zornitza Stark gene: POLR1B was added gene: POLR1B was added to Pierre Robin Sequence. Sources: Literature Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLR1B were set to 31649276 Phenotypes for gene: POLR1B were set to Treacher-Collins syndrome type 4 Review for gene: POLR1B was set to GREEN Added comment: Five unrelated families and a zebrafish model, variant inherited in two of the families, once from affected parent and once from mosaic parent. Note four of the families had missense variants affecting same residue, p.Arg1003 Sources: Literature |
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| Pierre Robin Sequence v0.1 |
Zornitza Stark Panel name changed from Pierre Robin sequence _VCGS to Pierre Robin Sequence Panel types changed to Victorian Clinical Genetics Services |
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| Pierre Robin Sequence v0.0 | ZSWIM6 |
Zornitza Stark gene: ZSWIM6 was added gene: ZSWIM6 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ZSWIM6 was set to Unknown |
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| Pierre Robin Sequence v0.0 | TXNL4A |
Zornitza Stark gene: TXNL4A was added gene: TXNL4A was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TXNL4A was set to Unknown |
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| Pierre Robin Sequence v0.0 | TSR2 |
Zornitza Stark gene: TSR2 was added gene: TSR2 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TSR2 was set to Unknown |
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| Pierre Robin Sequence v0.0 | TMCO1 |
Zornitza Stark gene: TMCO1 was added gene: TMCO1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TMCO1 was set to Unknown |
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| Pierre Robin Sequence v0.0 | TGDS |
Zornitza Stark gene: TGDS was added gene: TGDS was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TGDS was set to Unknown |
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| Pierre Robin Sequence v0.0 | TCOF1 |
Zornitza Stark gene: TCOF1 was added gene: TCOF1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TCOF1 was set to Unknown |
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| Pierre Robin Sequence v0.0 | TBX22 |
Zornitza Stark gene: TBX22 was added gene: TBX22 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TBX22 was set to Unknown |
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| Pierre Robin Sequence v0.0 | TBX1 |
Zornitza Stark gene: TBX1 was added gene: TBX1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TBX1 was set to Unknown |
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| Pierre Robin Sequence v0.0 | SPECC1L |
Zornitza Stark gene: SPECC1L was added gene: SPECC1L was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SPECC1L was set to Unknown |
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| Pierre Robin Sequence v0.0 | SNRPB |
Zornitza Stark gene: SNRPB was added gene: SNRPB was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SNRPB was set to Unknown |
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| Pierre Robin Sequence v0.0 | SLC26A2 |
Zornitza Stark gene: SLC26A2 was added gene: SLC26A2 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC26A2 was set to Unknown |
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| Pierre Robin Sequence v0.0 | SF3B4 |
Zornitza Stark gene: SF3B4 was added gene: SF3B4 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SF3B4 was set to Unknown |
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| Pierre Robin Sequence v0.0 | SATB2 |
Zornitza Stark gene: SATB2 was added gene: SATB2 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SATB2 was set to Unknown |
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| Pierre Robin Sequence v0.0 | RPS28 |
Zornitza Stark gene: RPS28 was added gene: RPS28 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RPS28 was set to Unknown |
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| Pierre Robin Sequence v0.0 | RPS26 |
Zornitza Stark gene: RPS26 was added gene: RPS26 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RPS26 was set to Unknown |
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| Pierre Robin Sequence v0.0 | RPL5 |
Zornitza Stark gene: RPL5 was added gene: RPL5 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RPL5 was set to Unknown |
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| Pierre Robin Sequence v0.0 | RPL11 |
Zornitza Stark gene: RPL11 was added gene: RPL11 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RPL11 was set to Unknown |
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| Pierre Robin Sequence v0.0 | RBM10 |
Zornitza Stark gene: RBM10 was added gene: RBM10 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RBM10 was set to Unknown |
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| Pierre Robin Sequence v0.0 | PLCB4 |
Zornitza Stark gene: PLCB4 was added gene: PLCB4 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PLCB4 was set to Unknown |
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| Pierre Robin Sequence v0.0 | PGM1 |
Zornitza Stark gene: PGM1 was added gene: PGM1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PGM1 was set to Unknown |
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| Pierre Robin Sequence v0.0 | MN1 |
Zornitza Stark gene: MN1 was added gene: MN1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MN1 was set to Unknown |
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| Pierre Robin Sequence v0.0 | MED13L |
Zornitza Stark gene: MED13L was added gene: MED13L was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MED13L was set to Unknown |
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| Pierre Robin Sequence v0.0 | KCNJ2 |
Zornitza Stark gene: KCNJ2 was added gene: KCNJ2 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KCNJ2 was set to Unknown |
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| Pierre Robin Sequence v0.0 | IRF6 |
Zornitza Stark gene: IRF6 was added gene: IRF6 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IRF6 was set to Unknown |
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| Pierre Robin Sequence v0.0 | HOXA2 |
Zornitza Stark gene: HOXA2 was added gene: HOXA2 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HOXA2 was set to Unknown |
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| Pierre Robin Sequence v0.0 | GNAI3 |
Zornitza Stark gene: GNAI3 was added gene: GNAI3 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GNAI3 was set to Unknown |
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| Pierre Robin Sequence v0.0 | FOXE1 |
Zornitza Stark gene: FOXE1 was added gene: FOXE1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FOXE1 was set to Unknown |
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| Pierre Robin Sequence v0.0 | FOXC2 |
Zornitza Stark gene: FOXC2 was added gene: FOXC2 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FOXC2 was set to Unknown |
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| Pierre Robin Sequence v0.0 | FLNA |
Zornitza Stark gene: FLNA was added gene: FLNA was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FLNA was set to Unknown |
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| Pierre Robin Sequence v0.0 | EIF4A3 |
Zornitza Stark gene: EIF4A3 was added gene: EIF4A3 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EIF4A3 was set to Unknown |
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| Pierre Robin Sequence v0.0 | EFTUD2 |
Zornitza Stark gene: EFTUD2 was added gene: EFTUD2 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EFTUD2 was set to Unknown |
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| Pierre Robin Sequence v0.0 | EFNB1 |
Zornitza Stark gene: EFNB1 was added gene: EFNB1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EFNB1 was set to Unknown |
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| Pierre Robin Sequence v0.0 | EDNRA |
Zornitza Stark gene: EDNRA was added gene: EDNRA was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EDNRA was set to Unknown |
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| Pierre Robin Sequence v0.0 | EDN1 |
Zornitza Stark gene: EDN1 was added gene: EDN1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EDN1 was set to Unknown |
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| Pierre Robin Sequence v0.0 | DHODH |
Zornitza Stark gene: DHODH was added gene: DHODH was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DHODH was set to Unknown |
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| Pierre Robin Sequence v0.0 | COL9A3 |
Zornitza Stark gene: COL9A3 was added gene: COL9A3 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL9A3 was set to Unknown |
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| Pierre Robin Sequence v0.0 | COL9A2 |
Zornitza Stark gene: COL9A2 was added gene: COL9A2 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL9A2 was set to Unknown |
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| Pierre Robin Sequence v0.0 | COL9A1 |
Zornitza Stark gene: COL9A1 was added gene: COL9A1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL9A1 was set to Unknown |
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| Pierre Robin Sequence v0.0 | COL2A1 |
Zornitza Stark gene: COL2A1 was added gene: COL2A1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL2A1 was set to Unknown |
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| Pierre Robin Sequence v0.0 | COL11A2 |
Zornitza Stark gene: COL11A2 was added gene: COL11A2 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL11A2 was set to Unknown |
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| Pierre Robin Sequence v0.0 | COL11A1 |
Zornitza Stark gene: COL11A1 was added gene: COL11A1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL11A1 was set to Unknown |
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| Pierre Robin Sequence v0.0 | COG1 |
Zornitza Stark gene: COG1 was added gene: COG1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COG1 was set to Unknown |
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| Pierre Robin Sequence v0.0 | BMP4 |
Zornitza Stark gene: BMP4 was added gene: BMP4 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BMP4 was set to Unknown |
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| Pierre Robin Sequence v0.0 | BMP2 |
Zornitza Stark gene: BMP2 was added gene: BMP2 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BMP2 was set to Unknown |
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| Pierre Robin Sequence v0.0 | AMER1 |
Zornitza Stark gene: AMER1 was added gene: AMER1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AMER1 was set to Unknown |
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| Pierre Robin Sequence v0.0 | ALX4 |
Zornitza Stark gene: ALX4 was added gene: ALX4 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALX4 was set to Unknown |
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| Pierre Robin Sequence v0.0 | ALX3 |
Zornitza Stark gene: ALX3 was added gene: ALX3 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALX3 was set to Unknown |
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| Pierre Robin Sequence v0.0 | ALX1 |
Zornitza Stark gene: ALX1 was added gene: ALX1 was added to Pierre Robin sequence _VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALX1 was set to Unknown |
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| Pierre Robin Sequence v0.0 | Zornitza Stark Added panel Pierre Robin sequence _VCGS | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||