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Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 | ARID1B | Eleanor Williams Tag Q2_23_promote_green was removed from gene: ARID1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 | ARID1B | Eleanor Williams reviewed gene: ARID1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.173 | ARID1B |
Eleanor Williams Source Expert Review Green was added to ARID1B. Source NHS GMS was added to ARID1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Rare syndromic craniosynostosis or isolated multisuture synostosis v4.13 | ARID1B | Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: ARID1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.13 | ARID1B | Achchuthan Shanmugasundram Phenotypes for gene: ARID1B were changed from Coffin-Siris syndrome 1, OMIM:135900 to Coffin-Siris syndrome 1, OMIM:135900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.12 | ARID1B | Achchuthan Shanmugasundram Phenotypes for gene: ARID1B were changed from to Coffin-Siris syndrome 1, OMIM:135900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.11 | ARID1B | Achchuthan Shanmugasundram Publications for gene: ARID1B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.10 | ARID1B | Achchuthan Shanmugasundram Classified gene: ARID1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.10 | ARID1B | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Rebecca Tooze (University of Oxford), there is sufficient evidence (>3 unrelated cases) for this gene to be promoted to GREEN at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.10 | ARID1B | Achchuthan Shanmugasundram Gene: arid1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.9 | ARID1B | Achchuthan Shanmugasundram reviewed gene: ARID1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 27474218, 32530565, 34429528, 36118902, 36980886; Phenotypes: Coffin-Siris syndrome 1, OMIM:135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v3.4 | ARID1B |
Rebecca Tooze gene: ARID1B was added gene: ARID1B was added to Craniosynostosis. Sources: Literature,Research Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for gene: ARID1B was set to GREEN Added comment: • Analysis of the UK 100kGP identified a frameshift variant in ARID1B in a patient with intellectual disability and sagittal synostosis: c.3594delinsCCCCCA; p.(Gly1199Profs*14) (Hyder et al., 2021). • A further frameshifting variant was described in an individual within the Chinese cohort with sagittal craniosynostosis c.2346_2352del; p.(Ser784Cysfs*59) (Chen et al., 2022). • An additional patient was described with trigonocephaly and motor developmental delay with a variant in ARID1B: c.2277delC; p.(Pro760fs) (Suzuki et al., 2020). • A de novo variant affecting ARID1B (c.1468_1472delTGGGC; p.(Trp490Glyfs*43)) was identified in an individual with craniosynostosis out of a cohort of neurodevelopmental disorder patients (Mignot et al., 2016). Sources: Literature, Research |