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Intellectual disability syndromic and non-syndromic

Gene: RAB40AL

Red List (low evidence)

RAB40AL (RAB40A like)
EnsemblGeneIds (GRCh38): ENSG00000102128
EnsemblGeneIds (GRCh37): ENSG00000102128
OMIM: 300405, Gene2Phenotype
RAB40AL is in 1 panel

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Refuted association with XL-ID.
Created: 9 Dec 2019, 9:34 a.m. | Last Modified: 9 Dec 2019, 9:34 a.m.
Panel Version: 0.1041

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE
OMIM
300405
Clinvar variants
Variants in RAB40AL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rab40al has been classified as Red List (Low Evidence).

9 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RAB40AL were changed from to MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE

9 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RAB40AL were set to

9 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RAB40AL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

9 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rab40al has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RAB40AL was added gene: RAB40AL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAB40AL was set to Unknown