Autoimmune Lymphoproliferative Syndrome
Gene: NRASEnsemblGeneIds (GRCh38): ENSG00000213281
EnsemblGeneIds (GRCh37): ENSG00000213281
OMIM: 164790, Gene2Phenotype
NRAS is in 18 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
PMID:39060684; 1x individual with Gly13Asp
PMID:17517660; 1x de novo GoF variant Gly13Asp.
NB: PMID:21079152 states that the paper above is a somatic variant. However, lymphoblasts, monocytes, and buccal epithelial cells, all demonstrating a heterozygous variant
PMID:33011939; review with 11x individuals
Gly13Asp, Gly12Val, Gly12Ser, Gly13Cys
Sources: LiteratureCreated: 15 Jan 2025, 12:18 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
autoimmune lymphoproliferative syndrome type 4 MONDO:0013767
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- autoimmune lymphoproliferative syndrome type 4 MONDO:0013767
- OMIM
- 164790
- Clinvar variants
- Variants in NRAS
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rasopathy
- Calcium and Phosphate disorders
- Cardiomyopathy_Paediatric
- Lymphoedema_syndromic
- Vasculitis
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Cancer Predisposition_Paediatric
- Vascular Malformations_Germline
- Macrocephaly_Megalencephaly
- Vascular Malformations_Somatic
- Fetal anomalies
- Congenital Heart Defect
- Autoimmune Lymphoproliferative Syndrome
- Mosaic skin disorders
- Mendeliome
- Callosome
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: nras has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: nras has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)gene: NRAS was added gene: NRAS was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NRAS were set to 39060684; 17517660; 33011939 Phenotypes for gene: NRAS were set to autoimmune lymphoproliferative syndrome type 4 MONDO:0013767 Review for gene: NRAS was set to GREEN gene: NRAS was marked as current diagnostic