| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Structural eye disease v3.79 | ARHGAP35 | Eleanor Williams Tag gene-checked tag was added to gene: ARHGAP35. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.79 | ARHGAP35 |
Arina Puzriakova Tag Q4_23_promote_green was removed from gene: ARHGAP35. Tag Q4_23_NHS_review was removed from gene: ARHGAP35. |
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| Structural eye disease v3.79 | ARHGAP35 | Arina Puzriakova reviewed gene: ARHGAP35: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.78 | ARHGAP35 |
Arina Puzriakova 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) |
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| Structural eye disease v3.22 | ARHGAP35 |
Sarah Leigh Tag Q4_23_promote_green tag was added to gene: ARHGAP35. Tag Q4_23_NHS_review tag was added to gene: ARHGAP35. |
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| Structural eye disease v3.22 | ARHGAP35 | Sarah Leigh edited their review of gene: ARHGAP35: Added comment: 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.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.22 | ARHGAP35 | Sarah Leigh Classified gene: ARHGAP35 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.22 | ARHGAP35 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.22 | ARHGAP35 | Sarah Leigh Gene: arhgap35 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.4 | ARHGAP35 |
Hannah Knight 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 Added comment: 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: Literature |
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