PanelApp
  1. Genes and Genomic Entities
  2. THUMPD1

THUMPD1

THUMP domain containing 1
OMIM: 616662, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green THUMPD1 in Mendeliome


Version 1.3512

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989

Green THUMPD1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.357

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989

Green THUMPD1 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.238

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989

Green THUMPD1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.410

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Syndromic disease, MONDO:0002254, THUMPD1-related

Green THUMPD1 in Growth failure


Version 1.83

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Syndromic disease, MONDO:0002254, THUMPD1-related