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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)
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