CENPT

centromere protein T
OMIM: 611510, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber CENPT in Eye Anterior Segment Abnormalities


Level 2: Ophthalmological disorders
Version 2.1

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Syndromic disease, MONDO: 0002254, CENPT-related

Amber CENPT in Mendeliome


Version 2.543

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Syndromic disease, MONDO: 0002254, CENPT-related

Amber CENPT in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.31

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Syndromic disease, MONDO: 0002254, CENPT-related

Amber CENPT in Growth failure


Version 2.28

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Syndromic disease, MONDO: 0002254, CENPT-related

Amber CENPT in Fetal anomalies


Version 2.76

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Syndromic disease, MONDO: 0002254, CENPT-related