Limb disorders
Gene: NOTCH1Comment on list classification: Changed gene from status Red to Green, there are more than three unrelated cases reported for variants in NOTCH1 causing Adams-Oliver type 5 syndromeCreated: 5 Apr 2018, 1:19 p.m.
Comment on phenotypes: Added synonym Limb, scalp and skull defects from OrphanetCreated: 5 Apr 2018, 1:03 p.m.
Comment on publications: added genereview for AOS: PMID 27077170Created: 5 Apr 2018, 1:01 p.m.
Comment on phenotypes: added SynonymCreated: 5 Apr 2018, 12:52 p.m.
Comment on publications: Added publications to support the variants of this gene being associated to the observed phenotype.Created: 5 Apr 2018, 12:48 p.m.
Comment on mode of inheritance: added MOI from OMIM and literatureCreated: 5 Apr 2018, 12:42 p.m.
Comment on phenotypes: Added phenotypeCreated: 5 Apr 2018, 12:41 p.m.
Louise Daugherty: Comment on phenotypes: Added p
Publications for NOTCH1 were set to 25132448; 25963545; 27077170; 25132448
This gene has been classified as Green List (High Evidence).
Phenotypes for NOTCH1 were set to Adams-Oliver syndrome 5, 616028; Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly); AOS; Limb, scalp and skull defects
Publications for NOTCH1 were set to 25132448; 25963545; 27077170
Phenotypes for NOTCH1 were set to Adams-Oliver syndrome 5, 616028; Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly); AOS
Publications for NOTCH1 were set to 25132448; 25963545
Mode of inheritance for NOTCH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for NOTCH1 were set to Adams-Oliver syndrome 5, 616028; Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly)
London South East RGC GSTT was added to NOTCH1. Panel: Limb disorders
NOTCH1 was added to Limb disorders panel. Sources: Viapath
NOTCH1 was created by Ellen McDonagh