Cerebellar and Pontocerebellar Hypoplasia
Gene: MSL3EnsemblGeneIds (GRCh38): ENSG00000005302
EnsemblGeneIds (GRCh37): ENSG00000005302
OMIM: 300609, Gene2Phenotype
MSL3 is in 5 panels
2 reviews
Chirag Patel (Genetic Health Queensland)
Well established ID gene. 2021 paper expands phenotype to include cerebellar vermis hypoplasia as a consistent MRI finding. Reported 25 individuals with syndrome in paper, but 8 patients had MRI reviewed by expert - 8/8 had cerebellar hypoplasia.
Sources: LiteratureCreated: 8 Feb 2021, 2:02 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Basilicata-Akhtar syndrome, OMIM # 301032
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Basilicata-Akhtar syndrome, OMIM # 301032
- OMIM
- 300609
- Clinvar variants
- Variants in MSL3
- 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: msl3 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MSL3 were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: msl3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: msl3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: MSL3 was added gene: MSL3 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature Mode of inheritance for gene: MSL3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: MSL3 were set to Basilicata-Akhtar syndrome, OMIM # 301032 Review for gene: MSL3 was set to GREEN gene: MSL3 was marked as current diagnostic