MED29

mediator complex subunit 29
OMIM: 612914, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber MED29 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.91

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia, MONDO:0020135, MED29-related

Amber MED29 in Mendeliome


Version 1.3473

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia, MONDO:0020135, MED29-related

Amber MED29 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.351

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia, MONDO:0020135, MED29-related

Amber MED29 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.390

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia, MONDO:0020135, MED29-related