Structural eye disease
Gene: ARHGAP35
ARHGAP35 variants are not associated with a phenotype in OMIM, but ARHGAP35 has definitive association with ARHGAP35-related developmental disorder (monoallelic) in Gen2Phen gene. PMID: 36450800 reports four monoallelic ARHGAP35 variants in four unrelated cases.Created: 17 Oct 2023, 1:52 p.m. | Last Modified: 17 Oct 2023, 1:52 p.m.
Panel Version: 3.22
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 17 Oct 2023, 1:41 p.m. | Last Modified: 17 Oct 2023, 1:41 p.m.
Panel Version: 3.22
Novel damaging variants in ARHGAP35 were identified in five individuals with developmental ocular disorders from four families
Family 1 - father and daughter with microphthalmia. c.4251delC p.(Thr1418Argfs*381) shared by both affected individuals. This variant was not present in five unaffected family members: mother, brother, paternal grandmother, and two paternal aunts
Family 2 - simplex case of a boy with corneal opacity with cataract, iris hypoplasia, and glaucoma treated with keratoprostheses. De novo variant identified c.4444delC p.(Gln1482Serfs*317)
Family 3 - simplex case of a boy with bilateral microphthalmia. De novo variant identified c.1849C > T p.(Arg617Ter)
Family 4 - adult male patient with bilateral anophthalmia. Trio exome sequencing identified a novel variant in ARHGAP35, c.4294 T > C p.(Cys1432Arg), inherited from the father, who did not have a MAC phenotype but was reported to wear glasses from a young age with no further details available. Labelled as a VUS
Sources: LiteratureCreated: 12 Sep 2023, 1:43 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Anophthalmia; microphthalmia; coloboma
Publications
Tag Q4_23_promote_green tag was added to gene: ARHGAP35. Tag Q4_23_NHS_review tag was added to gene: ARHGAP35.
Gene: arhgap35 has been classified as Amber List (Moderate Evidence).
gene: ARHGAP35 was added gene: ARHGAP35 was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: ARHGAP35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARHGAP35 were set to 36450800 Phenotypes for gene: ARHGAP35 were set to Anophthalmia; microphthalmia; coloboma Review for gene: ARHGAP35 was set to GREEN