RASA1

RAS p21 protein activator 1
OMIM: 139150, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Red RASA1 in Congenital diaphragmatic hernia Level 2: Dysmorphic and congenital abnormality syndromes Version 1.14	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 0.313	review	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 1.1891	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 0.6063	review	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	review	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 1.11 Component of the following Super Panels: Vascular Malformations SuperPanel	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	review	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 0.39 Component of the following Super Panels: Progressive Neurological Conditions	review	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 1.13 Component of the following Super Panels: Vascular Malformations SuperPanel	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	review	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 1.12 Component of the following Super Panels: Vascular Malformations SuperPanel	review	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 1.255	review	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 BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Capillary malformation-arteriovenous malformation 1, MIM#608354