Cerebellar and Pontocerebellar Hypoplasia
Gene: MED27EnsemblGeneIds (GRCh38): ENSG00000160563
EnsemblGeneIds (GRCh37): ENSG00000160563
OMIM: 605044, Gene2Phenotype
MED27 is in 8 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286
Alison Yeung (Victorian Clinical Genetics Services)
16 patients from 11 families reported
Sources: LiteratureCreated: 1 Mar 2021, 5:22 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability; cerebellar hypoplasia; dystonia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286
- OMIM
- 605044
- Clinvar variants
- Variants in MED27
- 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: med27 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MED27 were changed from Intellectual disability; cerebellar hypoplasia; dystonia to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: med27 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Alison Yeung (Victorian Clinical Genetics Services)gene: MED27 was added gene: MED27 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED27 were set to 33443317 Phenotypes for gene: MED27 were set to Intellectual disability; cerebellar hypoplasia; dystonia Review for gene: MED27 was set to GREEN gene: MED27 was marked as current diagnostic