Autoimmune Lymphoproliferative Syndrome
Gene: KRASEnsemblGeneIds (GRCh38): ENSG00000133703
EnsemblGeneIds (GRCh37): ENSG00000133703
OMIM: 190070, Gene2Phenotype
KRAS is in 21 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
Recurrent variant Gly13Cys
PMID:39060684
2x individuals with atypical ALPS - Gly13Cys
PMID:27577878
1x de novo mosaic in blood individual with ALPS - Gly13Cys
PMID:21079152
1x individual with ALPS-like syndrome somatic for Gly13Cys
1x individual with ALPS-like syndrome somatic for Gly12Asp
Sources: LiteratureCreated: 22 Nov 2024, 5:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
RAS-associated autoimmune leukoproliferative disorder MIM#614470
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
-
- RAS-associated autoimmune leukoproliferative disorder MIM#614470
- OMIM
- 190070
- Clinvar variants
- Variants in KRAS
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rasopathy
- Cardiomyopathy_Paediatric
- Incidentalome_PREGEN_DRAFT
- Lymphoedema_syndromic
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Cancer Predisposition_Paediatric
- Vascular Malformations_Germline
- Macrocephaly_Megalencephaly
- Craniosynostosis
- Vascular Malformations_Somatic
- Fetal anomalies
- Additional findings_Paediatric
- 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: kras has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: kras 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: KRAS was added gene: KRAS was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRAS were set to 27577878; 39060684; 21079152 Phenotypes for gene: KRAS were set to RAS-associated autoimmune leukoproliferative disorder MIM#614470 Review for gene: KRAS was set to GREEN gene: KRAS was marked as current diagnostic