Segmental overgrowth disorders - Deep sequencing
Gene: RASA1Mode of inheritance (monoallelic) taken from G2P.Created: 28 Nov 2016, 11:47 a.m.
Comment when marking as ready: RASA1 rated as green based on expert review and is a confirmed DD gene for Parkes Weber Syndrome.Created: 15 Nov 2016, 5:12 p.m.
Comment on list classification: Updated rating from Amber to Green because RASA1 in original list provided by Richard Scott.Created: 7 Nov 2016, 2:46 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Parkes Weber syndrome, 608355; PKWS; Parkes Weber Syndrome
28 November 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for RASA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
RASA1 was added to Regional overgrowth disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RASA1 was added to Regional overgrowth disorderspanel. Source: Radboud University Medical Center, Nijmegen
RASA1 was added to Regional overgrowth disorderspanel. Sources: Expert Review
RASA1 was created by rfoulger