1. Genes and Genomic Entities
  2. RASA1

RASA1

RAS p21 protein activator 1
OMIM: 139150, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Green RASA1 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.95

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Capillary malformation-arteriovenous malformation 1, OMIM:608354
  • capillary malformation-arteriovenous malformation 1, MONDO:0020783
Green RASA1 in Cerebral vascular malformations


Level 2: Neurology
Version 4.10
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Green
  • Other
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Capillary malformation-arteriovenous malformation 1, OMIM:608354
Green RASA1 in Segmental overgrowth disorders - Deep sequencing


Level 2: Dermatology
Version 4.5
Latest signed off version: v4.0 (30 Apr 2025)

review 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
Green RASA1 in Hereditary haemorrhagic telangiectasia


Level 2: Respiratory
Version 3.7
Latest signed off version: v3.0 (30 Nov 2022)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Capillary malformation-arteriovenous malformation 608354
Green RASA1 in Mosaic skin disorders - deep sequencing


Level 2: Dermatology
Version 3.27
Latest signed off version: v3.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Capillary malformation-arteriovenous malformation syndrome
Green RASA1 in Vascular skin disorders


Level 2: Dermatology
Version 2.5
Latest signed off version: v2.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Capillary malformation-arteriovenous malformation syndrome 1, OMIM:608354
Green RASA1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.138
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Capillary malformation-arteriovenous malformation 1, OMIM:608354
  • capillary malformation-arteriovenous malformation 1, MONDO:0020783
Red RASA1 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • PARKES WEBER SYNDROME 608355
    • CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 608354
    Red RASA1 in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Expert
    Red RASA1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Parkes Weber syndrome, 608355
    • Capillary
    • malformation-arteriovenous malformation, 608354
    • Basal cell carcinoma, somatic, 605462
    Green RASA1 in Primary lymphoedema


    Level 2: Cardiology
    Version 4.21
    Latest signed off version: v4.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Capillary malformation-arteriovenous malformation 1 608354