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  3. MED27
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Cataract

Gene: MED27

Green List (high evidence)
MED27 (mediator complex subunit 27)
EnsemblGeneIds (GRCh38): ENSG00000160563
EnsemblGeneIds (GRCh37): ENSG00000160563
OMIM: 605044, Gene2Phenotype
MED27 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

16 individuals from 11 families reported.
Sources: Literature
Created: 26 Apr 2021, 3:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286

Publications

Created: 26 Apr 2021, 3:27 a.m.

Panel version: 0.275

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

26 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: med27 has been classified as Green List (High Evidence).

26 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: med27 has been classified as Green List (High Evidence).

26 Apr 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MED27 was added gene: MED27 was added to Cataract. 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 Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286 Review for gene: MED27 was set to GREEN