TMEM189

transmembrane protein 189
OMIM: 610994, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber TMEM189 in Mendeliome


Version 1.4693

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, PEDS1-related

Amber TMEM189 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.425

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, PEDS1-related

Amber TMEM189 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.741

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, PEDS1-related