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| Anophthalmia_Microphthalmia_Coloboma v2.0 | MAB21L1 | Gene migrated from ENSG00000180660 to ENSG00000180660 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia_Microphthalmia_Coloboma v1.60 | MAB21L1 | Zornitza Stark Phenotypes for gene: MAB21L1 were changed from Cerebellar, ocular, craniofacial, and genital syndrome OMIM#618479 to Cerebellar, ocular, craniofacial, and genital syndrome OMIM#618479; Microphthalmia MONDO:0021129, MAB21L1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia_Microphthalmia_Coloboma v1.59 | MAB21L1 | Zornitza Stark Publications for gene: MAB21L1 were set to 30487245 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia_Microphthalmia_Coloboma v1.58 | MAB21L1 | Zornitza Stark Mode of inheritance for gene: MAB21L1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia_Microphthalmia_Coloboma v1.57 | MAB21L1 |
Achchuthan Shanmugasundram commented on gene: MAB21L1: Biallelic variants in MAB21L1 are associated with a syndromic phenotype including ophthalmological presentations such as horizontal nystagmus, bilateral corneal opacities/ corneal dystrophy, strabismus and retinal degeneration. These phenotypes are not relevant for this panel. However, there is sufficient evidence available for the association of monoallelic MAB21L1 variants with phenotypes relevant to this panel such as microphthalmia and aniridia. |
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| Anophthalmia_Microphthalmia_Coloboma v1.57 | MAB21L1 | Achchuthan Shanmugasundram reviewed gene: MAB21L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27103078, 30487245, 33973683, 36413568, 36446583, 36892533, 39016008; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia_Microphthalmia_Coloboma v0.42 | MAB21L1 | Zornitza Stark Marked gene: MAB21L1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia_Microphthalmia_Coloboma v0.42 | MAB21L1 | Zornitza Stark Gene: mab21l1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia_Microphthalmia_Coloboma v0.42 | MAB21L1 | Sue White Classified gene: MAB21L1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia_Microphthalmia_Coloboma v0.42 | MAB21L1 | Sue White Gene: mab21l1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia_Microphthalmia_Coloboma v0.41 | MAB21L1 |
Sue White gene: MAB21L1 was added gene: MAB21L1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAB21L1 were set to 30487245 Phenotypes for gene: MAB21L1 were set to Cerebellar, ocular, craniofacial, and genital syndrome OMIM#618479 Penetrance for gene: MAB21L1 were set to Complete Review for gene: MAB21L1 was set to GREEN Added comment: Sources: Literature |
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