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| Bilateral congenital or childhood onset cataracts v2.109 | ZNF526 | Sarah Leigh Tag gene-checked was removed from gene: ZNF526. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.109 | ZNF526 | Sarah Leigh Phenotypes for gene: ZNF526 were changed from Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia to Dentici-Novelli neurodevelopmental syndrome, OMIM:619877 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.108 | ZNF526 | Eleanor Williams Tag gene-checked tag was added to gene: ZNF526. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.98 | ZNF526 | Ivone Leong Tag for-review was removed from gene: ZNF526. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.98 | ZNF526 | Ivone Leong commented on gene: ZNF526 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.97 | ZNF526 |
Ivone Leong Source Expert Review Green was added to ZNF526. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Bilateral congenital or childhood onset cataracts v2.56 | ZNF526 | Arina Puzriakova Classified gene: ZNF526 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.56 | ZNF526 |
Arina Puzriakova Added comment: Comment on list classification: Rating Amber but should be promoted to Green at the next GMS panel update (added for-review' tag). At least 5 individuals from 4 unrelated families all presenting bilateral ocular cataracts, among other features (PMID: 33397746) |
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| Bilateral congenital or childhood onset cataracts v2.56 | ZNF526 | Arina Puzriakova Gene: znf526 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.55 | ZNF526 |
Arina Puzriakova gene: ZNF526 was added gene: ZNF526 was added to Cataracts. Sources: Literature for-review tags were added to gene: ZNF526. Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF526 were set to 33397746 Phenotypes for gene: ZNF526 were set to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia Review for gene: ZNF526 was set to GREEN Added comment: Currently not associated with any phenotype in OMIM (last updated on 09/12/2011), but has a 'possible' disease confidence rating for 'Autosomal Recessive Mental Retardation' in Gene2Phenotype. - PMID: 33397746 (2021) - Five individuals from four unrelated families with homozygous ZNF526 variants. Four harboured truncating variants, and were all affected by profound DD and severe ID, microcephaly (ranging from -4 SD to -8 SD), bilateral progressive cataracts, hypertonic-dystonic movements, epilepsy and brain MRI anomalies. The fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe ID, and normal brain MRI. Zebrafish model demonstrated brain and eye malformations resembling findings seen in the human holoprosencephaly spectrum Sources: Literature |
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