Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: ARID1B
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 11:55 a.m. | Last Modified: 11 Oct 2023, 11:55 a.m.
Panel Version: 4.174
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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.Created: 6 May 2023, 5:54 a.m. | Last Modified: 6 May 2023, 5:54 a.m.
Panel Version: 4.10
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Coffin-Siris syndrome 1, OMIM:135900
Publications
• 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, ResearchCreated: 2 Mar 2023, 1:36 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag Q2_23_promote_green was removed from gene: ARID1B.
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)
Tag Q2_23_promote_green tag was added to gene: ARID1B.
Phenotypes for gene: ARID1B were changed from Coffin-Siris syndrome 1, OMIM:135900 to Coffin-Siris syndrome 1, OMIM:135900
Phenotypes for gene: ARID1B were changed from to Coffin-Siris syndrome 1, OMIM:135900
Publications for gene: ARID1B were set to
Gene: arid1b has been classified as Amber List (Moderate Evidence).
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