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| Structural eye disease v3.79 | EPHA2 |
Arina Puzriakova Tag Q4_23_promote_green was removed from gene: EPHA2. Tag Q4_23_MOI was removed from gene: EPHA2. Tag Q4_23_NHS_review was removed from gene: EPHA2. |
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| Structural eye disease v3.79 | EPHA2 | Arina Puzriakova reviewed gene: EPHA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.78 | EPHA2 |
Arina Puzriakova Source Expert Review Green was added to EPHA2. Mode of inheritance for gene EPHA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Structural eye disease v3.40 | EPHA2 | Sarah Leigh changed review comment from: EPHA2 variants are associated with Cataract 6, multiple types (OMIM:116600) and as definitive Gen2Phen gene for the same condition. PMID: 35918037 presents a review numerous EPHA2 variants and their associated phenotypes, together with a report of a syndromic complex microphthalmia with iris hypoplasia caused compound heterozygous EPHA2 variants. Various ocular features are reported, including microphthalmia, congenital cataracts, nystagmus, microcornea (PMID: 35918037, table 1). This article also highlights that both monoallelic and biallelic EPHA2 variants are responsible for the phenotypes reported in table 1.; to: EPHA2 variants are associated with Cataract 6, multiple types (OMIM:116600) and as definitive Gen2Phen gene for the same condition. PMID: 35918037 presents a review numerous EPHA2 variants and their associated phenotypes, together with a report of a syndromic complex microphthalmia with iris hypoplasia caused compound heterozygous EPHA2 variants. Various ocular features are reported, including microphthalmia, congenital cataracts, nystagmus, microcornea (PMID: 35918037, table 1). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.40 | EPHA2 | Sarah Leigh Added comment: Comment on mode of inheritance: PMID: 35918037 highlights that both monoallelic and biallelic EPHA2 variants are responsible for the phenotypes reported in table 1, therefore, the mode of inheritance for EPHA2 should be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.40 | EPHA2 | Sarah Leigh Mode of inheritance for gene: EPHA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.39 | EPHA2 |
Sarah Leigh Tag Q4_23_promote_green tag was added to gene: EPHA2. Tag Q4_23_MOI tag was added to gene: EPHA2. Tag Q4_23_NHS_review tag was added to gene: EPHA2. |
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| Structural eye disease v3.39 | EPHA2 | Sarah Leigh reviewed gene: EPHA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.39 | EPHA2 | Sarah Leigh Publications for gene: EPHA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.38 | EPHA2 | Sarah Leigh Phenotypes for gene: EPHA2 were changed from Cataract 6, multiple types, 116600 to Cataract 6, multiple types, OMIM:116600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.4 | EPHA2 | Hannah Knight reviewed gene: EPHA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35918037; Phenotypes: Bilateral microphthalmia, microcornea, congenital cataract; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.108 | EPHA2 | Ivone Leong Classified gene: EPHA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.108 | EPHA2 | Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. There is currently not enough evidence to support a gene-disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.108 | EPHA2 | Ivone Leong Gene: epha2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.101 | EPHA2 | Nicola Ragge edited their review of gene: EPHA2: Added comment: Harding et al. 2021 report two unrelated multi-generation families with microphthalmia and cataract with a missense or splice site variant segregating in affected members. No inheritance for second variant and no data supporting splicing effect. Variants have previously been found in families with cataracts. They also demonstrate that morpholino knockdown of EPHA2b in zebrafish caused microphthalmia. Varsome: missense = VUS; splice variant=pathogenic; Changed rating: AMBER; Changed publications to: 33671840; Changed phenotypes to: Cataract 6, multiple types, Cataract 6, multiple types 116600, 116600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | EPHA2 | Nicola Ragge reviewed gene: EPHA2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 6, multiple types, 116600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | EPHA2 | Ivone Leong edited their review of gene: EPHA2: Changed phenotypes: Cataract 6, multiple types, 116600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | EPHA2 | Ivone Leong reviewed gene: EPHA2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Anterior segment anomalies with or without cataract, 113650, Branchiootic syndrome 1, 602588; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | EPHA2 |
Ivone Leong gene: EPHA2 was added gene: EPHA2 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: EPHA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EPHA2 were set to Cataract 6, multiple types, 116600 |
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