Cataract
Gene: MSMO1EnsemblGeneIds (GRCh38): ENSG00000052802
EnsemblGeneIds (GRCh37): ENSG00000052802
OMIM: 607545, Gene2Phenotype
MSMO1 is in 7 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
At least 3 probands with biallelic variant and congenital cataract as a prominent feature of the condition.
Sources: Expert listCreated: 15 Apr 2020, 2:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834
- MONDO:0014793
- OMIM
- 607545
- Clinvar variants
- Variants in MSMO1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: msmo1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MSMO1 were changed from Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834 to Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834; MONDO:0014793
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: msmo1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MSMO1 was added gene: MSMO1 was added to Cataract. Sources: Expert list Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSMO1 were set to 21285510; 24144731; 28673550 Phenotypes for gene: MSMO1 were set to Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834 Review for gene: MSMO1 was set to GREEN