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Mendeliome

Gene: ARHGEF40

Amber List (moderate evidence)

ARHGEF40 (Rho guanine nucleotide exchange factor 40)
EnsemblGeneIds (GRCh38): ENSG00000165801
EnsemblGeneIds (GRCh37): ENSG00000165801
OMIM: 610018, Gene2Phenotype
ARHGEF40 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

AMBER but suggest only reporting de novo variants at this residue.
Created: 7 Feb 2025, 6:11 a.m. | Last Modified: 7 Feb 2025, 6:11 a.m.
Panel Version: 1.2297

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

2 individuals with global developmental delay, hypotonia, short stature, hearing impairment, nystagmus, feeding issues, and dysmorphism (bifid uvula, narrow mouth, high palate, micrognathia). Trio clinical whole exome sequencing identified de novo variants in the ARHGEF40 gene at position p.Arg225, which is fully conserved in mammals and located within the n-terminal keratin binding region (p.Arg225Trp and p.Arg225Gln). Of note, multiple additional probands with rare missense variants at the p.Arg225 residue have been identified by the same laboratory (but there was no consent for publication, providing further evidence of
the importance of this residue.

The ARHGEF40 gene (aka SOLO) is a member of the Rho guanine nucleotide exchange factor (Rho-GEF) family of proteins, which stimulate Rho signal transduction molecules by converting them from inactive GDP-bound form to the active GTP-bound state. No functional studies to characterise disease-gene relationship or disease mechanism.
Sources: Literature
Created: 5 Feb 2025, 11:23 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder MONDO:0700092

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder MONDO:0700092
OMIM
610018
Clinvar variants
Variants in ARHGEF40
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arhgef40 has been classified as Amber List (Moderate Evidence).

7 Feb 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arhgef40 has been classified as Amber List (Moderate Evidence).

5 Feb 2025, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: arhgef40 has been classified as Red List (Low Evidence).

5 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: arhgef40 has been classified as Green List (High Evidence).

5 Feb 2025, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: ARHGEF40 was added gene: ARHGEF40 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ARHGEF40 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARHGEF40 were set to PMID: 39838643 Phenotypes for gene: ARHGEF40 were set to Neurodevelopmental disorder MONDO:0700092 Review for gene: ARHGEF40 was set to RED