ATRIP

ATR interacting protein
OMIM: 606605, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber ATRIP in Familial breast cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.28

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hereditary breast cancer
Amber ATRIP in Breast cancer pertinent cancer susceptibility


Level 2: Cancer susceptibility
Version 2.16
Latest signed off version: v2.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hereditary breast cancer
Red ATRIP in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.70

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • microcephaly, micrognathia, small ear lobes, dental crowding
Red ATRIP in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
  • Other
  • Expert list
Phenotypes
  • Microcephalic primordial dwarfism
  • Severe microcephaly (-10 SD), micrognathia, dental crowding, small earlobes, delayed bone age, and symmetric dwarfism
Red ATRIP in Monogenic short stature


Level 2: Endocrinology
Version 1.31
Latest signed off version: v1.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Microcephalic primordial dwarfism
  • Microcephaly, micrognathia, small ear lobes, dental crowding