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Intellectual disability syndromic and non-syndromic

Gene: RASA1

Red List (low evidence)

RASA1 (RAS p21 protein activator 1)
EnsemblGeneIds (GRCh38): ENSG00000145715
EnsemblGeneIds (GRCh37): ENSG00000145715
OMIM: 139150, Gene2Phenotype
RASA1 is in 13 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Intellect is typically normal.
Created: 27 Feb 2020, 7:27 a.m. | Last Modified: 27 Feb 2020, 7:27 a.m.
Panel Version: 0.2238

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Capillary malformation-arteriovenous malformation 1, MIM# 608354

Sebastian Lunke (Victorian Clinical Genetics Services)

Red List (low evidence)

GEL review red in 2018, no evidence for link with ID since
Sources: Expert Review
Created: 27 Feb 2020, 6:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

History Filter Activity

27 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Sebastian Lunke (Victorian Clinical Genetics Services)

Gene: rasa1 has been classified as Red List (Low Evidence).

27 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Sebastian Lunke (Victorian Clinical Genetics Services)

gene: RASA1 was added gene: RASA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for gene: RASA1 was set to RED