Structural eye disease
Gene: ARHGAP35EnsemblGeneIds (GRCh38): ENSG00000160007
EnsemblGeneIds (GRCh37): ENSG00000160007
OMIM: 605277, Gene2Phenotype
ARHGAP35 is in 4 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.Created: 2 May 2024, 1:56 p.m. | Last Modified: 2 May 2024, 1:56 p.m.
Panel Version: 3.79
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sarah Leigh (Genomics England Curator)
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
Hannah Knight (NIHR BioResource - University of Cambridge)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Anophthalmia
- microphthalmia
- coloboma
- Tags
- OMIM
- 605277
- Clinvar variants
- Variants in ARHGAP35
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: ARHGAP35.
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_23_promote_green was removed from gene: ARHGAP35. Tag Q4_23_NHS_review was removed from gene: ARHGAP35.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source NHS GMS was added to ARHGAP35. Source Expert Review Green was added to ARHGAP35. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q4_23_promote_green tag was added to gene: ARHGAP35. Tag Q4_23_NHS_review tag was added to gene: ARHGAP35.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: arhgap35 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Hannah Knight (NIHR BioResource - University of Cambridge)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