Cerebellar and Pontocerebellar Hypoplasia
Gene: MAB21L1EnsemblGeneIds (GRCh38): ENSG00000180660
EnsemblGeneIds (GRCh37): ENSG00000180660
OMIM: 601280, Gene2Phenotype
MAB21L1 is in 5 panels
1 review
Sue White (Victorian Clinical Genetics Services)
Sources: LiteratureCreated: 29 Jan 2020, 1:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar, ocular, craniofacial, and genital syndrome 618479
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Cerebellar, ocular, craniofacial, and genital syndrome 618479
- OMIM
- 601280
- Clinvar variants
- Variants in MAB21L1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mab21l1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Sue White (Victorian Clinical Genetics Services)Gene: mab21l1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Sue White (Victorian Clinical Genetics Services)gene: MAB21L1 was added gene: MAB21L1 was added to Cerebellar and Pontocerebellar Hypoplasia. 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 618479 Penetrance for gene: MAB21L1 were set to Complete Review for gene: MAB21L1 was set to GREEN