| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.1989 | SLC33A1 | Zornitza Stark Phenotypes for gene: SLC33A1 were changed from CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, OMIM#614482 to Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1968 | SLC33A1 | Seb Lunke Marked gene: SLC33A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1968 | SLC33A1 | Seb Lunke Gene: slc33a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1968 | SLC33A1 | Seb Lunke Phenotypes for gene: SLC33A1 were changed from AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN to CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, OMIM#614482 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1967 | SLC33A1 | Seb Lunke Publications for gene: SLC33A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1966 | SLC33A1 | Seb Lunke reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31194315; Phenotypes: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, OMIM#614482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC33A1 |
Zornitza Stark gene: SLC33A1 was added gene: SLC33A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC33A1 were set to AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN |
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