Clefting
Gene: ARID1B
Comment on list classification: Although there are more than three unrelated cases reported, clefting is not consistently present in patients with monoallelic variants in this gene. Hence, this gene should be rated amber.Created: 15 Jun 2023, 7:20 p.m. | Last Modified: 15 Jun 2023, 7:28 p.m.
Panel Version: 4.16
PMID:30349098 - On this web-based survey based on previously reported features of patients with variants in ARID1B gene (143 patients in total), which also included submissions to DECIPHER database, two patients were identified with cleft palate, one with cleft uvula, two with bifid uvula and three with sub mucous cleft. Although variants identified in these patients are reported in this publication, there is no association of individual patients to phenotypes available.
Of >100 patients with ARID1B variants in the DECIPHER database, only one patient (c.3183_3184insT/ p.Tyr1062LeufsTer10) was reported with submucous cleft soft palate and two patients (c.4155_4156insA/ p.Asn1386LysfsTer18 & c.2620+5G>A) were reported with bifid uvula.
Sources: LiteratureCreated: 15 Jun 2023, 8:13 a.m. | Last Modified: 15 Jun 2023, 7:23 p.m.
Panel Version: 4.16
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Coffin-Siris syndrome 1, OMIM:135900
Publications
Gene: arid1b has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green was removed from gene: ARID1B.
Gene: arid1b has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green tag was added to gene: ARID1B.
gene: ARID1B was added gene: ARID1B was added to Clefting. Sources: Literature Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARID1B were set to 30349098; 37010288 Phenotypes for gene: ARID1B were set to Coffin-Siris syndrome 1, OMIM:135900 Review for gene: ARID1B was set to AMBER