Segmental overgrowth disorders

Gene: RASA1

Green List (high evidence)

RASA1 (RAS p21 protein activator 1)
EnsemblGeneIds (GRCh38): ENSG00000145715
EnsemblGeneIds (GRCh37): ENSG00000145715
OMIM: 139150, Gene2Phenotype
RASA1 is in 11 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Mode 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.

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Parkes Weber syndrome, 608355; PKWS; Parkes Weber Syndrome

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review
Phenotypes
  • Parkes Weber syndrome, 608355
  • PKWS
  • Parkes Weber Syndrome
OMIM
139150
Clinvar variants
Variants in RASA1
Penetrance
Complete
Panels with this gene

History Filter Activity

28 Nov 2016, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

28 November 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.

15 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

15 Nov 2016, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for RASA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

7 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

7 Nov 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

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

7 Nov 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

RASA1 was added to Regional overgrowth disorderspanel. Source: Radboud University Medical Center, Nijmegen

7 Nov 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

RASA1 was added to Regional overgrowth disorderspanel. Sources: Expert Review

7 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

RASA1 was created by rfoulger