ATRIP

ATR interacting protein
OMIM: 606605, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 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 2.17 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
Amber ATRIP in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 9.111 Latest signed off version: v9.91 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Seckel syndrome, MONDO:0019342 Recurrent infections, HP:0002719 Tags Q4_26_promote_green
Amber ATRIP in Severe microcephaly Level 2: Neurology Version 9.51 Latest signed off version: v9.13 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Other Expert list Phenotypes Seckel syndrome, MONDO:0019342 Microcephalic primordial dwarfism Severe microcephaly (-10 SD), micrognathia, dental crowding, small earlobes, delayed bone age, and symmetric dwarfism Tags Q4_26_promote_green
Amber ATRIP in Skeletal dysplasia Level 2: Musculoskeletal Version 10.26 Latest signed off version: v10.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Seckel syndrome, MONDO:0019342 Recurrent infections, HP:0002719
Amber ATRIP in Paediatric disorders - additional genes Level 2: Developmental disorders Version 8.21 Latest signed off version: v8.8 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Seckel syndrome, MONDO:0019342 Recurrent infections, HP:0002719 Tags Q4_26_promote_green
Red ATRIP in Monogenic short stature Level 2: Endocrinology Version 2.15 Latest signed off version: v2.8 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Seckel syndrome, MONDO:0019342 Recurrent infections, HP:0002719 Microcephalic primordial dwarfism Microcephaly, micrognathia, small ear lobes, dental crowding