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Intellectual disability

Gene: RAB40AL

Red List (low evidence)

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

3 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

RAB40AL was been reported as the locus for Martin-Probst syndrome (MPS), an X-linked deafness-intellectual disability syndrome (PMID: 11073537, 24863632,22581972) , but subsequent recent publications indicate that Martin Probst syndrome is probably not caused by RAB40AL mutations PMID:25044830 (2014); 25370018 (2015);26300074 (2014). In PMID: 25044830 Oldak et al (2014) alsp identified p.D59G in 8/405 males and 12/405 females in general Polish population, the prevalence of the p.D59G variant (2.47%) was typical for a common genetic variation observed in asymptomatic individuals.
Created: 18 Dec 2017, 3:39 p.m.

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

Phenotypes
Mental retardation, X-linked, syndromic, Martin-Probst type, 300519

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, X-linked, syndromic, Martin-Probst type, 300519
OMIM
300405
Clinvar variants
Variants in RAB40AL
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to RAB40AL.

12 Mar 2018, Gel status: 1

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.

5 Jan 2018, Gel status: 1

Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RAB40AL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene RAB40AL was set to [' 11073537', '22581972', '24863632', '25044830', ' 25370018', '26300074']

4 Dec 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for RAB40AL were set to Mental retardation, X-linked, syndromic, Martin-Probst type, 300519

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

RAB40AL was added to Intellectual disabilitypanel. Source: Expert Review Red Model of inheritance for gene RAB40AL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RAB40AL was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen