PanelApp
  1. Genes and Genomic Entities
  2. RASA1

RASA1

RAS p21 protein activator 1
OMIM: 139150, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Red RASA1 in Congenital diaphragmatic hernia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.17

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Capillary malformation-arteriovenous malformation 1, MIM# 608354

Green RASA1 in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.328

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Capillary malformation-arteriovenous malformation 1, MIM# 608354

Green RASA1 in Mendeliome


Version 1.3512

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Capillary malformation-arteriovenous malformation 1, MIM#608354

Red RASA1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.410

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review

Green RASA1 in Hereditary Haemorrhagic Telangiectasia


Level 2: Vascular disorders
Version 1.5

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Capillary malformation-arteriovenous malformation 608354

Green RASA1 in Vascular Malformations_Germline


Level 2: Cardiovascular disorders
Version 1.12

Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Capillary malformation-arteriovenous malformation, MIM# 608354

    Green RASA1 in Lymphoedema_syndromic

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 0.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

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

    Green RASA1 in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.9

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Genomics England PanelApp
    • Expert Review Green
    Phenotypes
    • Parkes Weber syndrome
    • Capillary malformation-arteriovenous malformation, 608354
    • Parkes Weber Syndrome
    • Parkes Weber syndrome (PKWS)
    • Parkes Weber syndrome, 608355
    • Capillary Malformation-Arteriovenous Malformation Syndrome

    Green RASA1 in Vascular Malformations_Somatic


    Level 2: Cardiovascular disorders
    Version 1.16

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Capillary malformation-arteriovenous malformation 1 (608354)

    Green RASA1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Capillary malformation-arteriovenous malformation

    Amber RASA1 in Mosaic skin disorders


    Level 2: Dermatological disorders
    Version 1.14

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    • NHS GMS
    Phenotypes
    • Capillary malformation-arteriovenous malformation syndrome

    Green RASA1 in Fetal anomalies


    Version 1.465

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    • Expert Review
    Phenotypes
    • Capillary malformation-arteriovenous malformation 1, MIM# 608354

    Red RASA1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Capillary malformation-arteriovenous malformation 1, MIM#608354