Microcephaly
Gene: MSMO1EnsemblGeneIds (GRCh38): ENSG00000052802
EnsemblGeneIds (GRCh37): ENSG00000052802
OMIM: 607545, Gene2Phenotype
MSMO1 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
5 unrelated families reported.Created: 30 Mar 2021, 10:49 p.m. | Last Modified: 30 Mar 2021, 10:49 p.m.
Panel Version: 0.573
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
- Victorian Clinical Genetics Services
- 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 publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MSMO1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: MSMO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MSMO1 were changed from to Microcephaly, congenital cataract, and psoriasiform dermatitis, MIM# 616834; MONDO:0014793
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MSMO1 was added gene: MSMO1 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MSMO1 was set to Unknown