RASA1

RAS p21 protein activator 1
OMIM: 139150, ClinGen, DECIPHER

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Red RASA1 in Congenital diaphragmatic hernia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

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 1.0

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 2.0

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 Rasopathy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • Noonan syndrome, MONDO:0018997
Tags
  • disputed

Red RASA1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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 2.0

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 2.0

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

Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders
Version 1.0

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 2.0

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 2.0

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 1.0

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 2.0

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 2.0

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 2.0

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