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Intellectual disability

Gene: RASA1

Red List (low evidence)

RASA1 (RAS p21 protein activator 1)
EnsemblGeneIds (GRCh38): ENSG00000145715
EnsemblGeneIds (GRCh37): ENSG00000145715
OMIM: 139150, Gene2Phenotype
RASA1 is in 11 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

Following discussion with the clinical team, this gene has been demoted from Amber to Red, in accordance with the external review by Zornitza Stark and Konstantinos Varvagiannis
Created: 17 Aug 2020, 10:09 a.m. | Last Modified: 22 Sep 2020, 3:42 p.m.
Panel Version: 3.331

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Intellect is typically normal.
Created: 27 Feb 2020, 7:28 a.m. | Last Modified: 27 Feb 2020, 7:28 a.m.
Panel Version: 3.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Capillary malformation-arteriovenous malformation 1, MIM# 608354

Konstantinos Varvagiannis (Other)

Red List (low evidence)

I could not find any evidence of DD/ID being a feature of RASA1-related disorders.

Wooderchak-Donahue et al. (PMID: 29891884) report on 60 individuals with pathogenic variant in RASA1 (and 9 further with VUS). DD/ID was not reported in any of the patients.

Bayrak-Todemir and Stevenson (PMID: 21348050 - shared authors with the previous article) do a further review where they specify that DD and severe neurologic findings are observed only in contiguous 5q14.3 deletions encompassing both RASA1 and MEF2C and that these findings are not thought to be related to RASA1 deletion (note MEF2C is a confirmed DD gene). The authors cite an article by Carr et al. [PMID: 21626678].

The contribution of each gene in 5q14.3q15 deletions is also discussed in a further article by Zweier and Rauch (https://doi.org/10.1159/000337496).

RASA1 is a confirmed DD gene in G2P associated however with the aforementioned phenotypes (Capillary malformation-arteriovenous malformation and Parkes Weber syndrome).

The gene is not included in gene panels for intellectual disability offered by diagnostic laboratories.

As a result, this gene could possibly be demoted to red.
Created: 15 Dec 2018, 7:32 a.m.

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 8:13 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 3:28 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Parkes Weber syndrome, 608355
  • Capillary
  • malformation-arteriovenous malformation, 608354
  • Basal cell carcinoma, somatic, 605462
OMIM
139150
Clinvar variants
Variants in RASA1
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

RASA1 was created by BRIDGE

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

RASA1 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene