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Fetal anomalies

Gene: RAB11A

Red List (low evidence)

RAB11A (RAB11A, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000103769
EnsemblGeneIds (GRCh37): ENSG00000103769
OMIM: 605570, Gene2Phenotype
RAB11A is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Five individuals reported with DNMs and neurodevelopmental phenotypes as part of this paper; however, clinical details are sparse. Emerging gene, phenotype not yet clearly delineated.

Clinical presentation is post-natal.
Sources: Literature
Created: 22 Jan 2020, 1:55 a.m. | Last Modified: 16 Feb 2022, 5:18 a.m.
Panel Version: 0.3544

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; seizures

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Epilepsy and intellectual disability
OMIM
605570
Clinvar variants
Variants in RAB11A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rab11a has been classified as Red List (Low Evidence).

16 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RAB11A were set to

16 Feb 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RAB11A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

16 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rab11a has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RAB11A was added gene: RAB11A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RAB11A were set to Epilepsy and intellectual disability