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Paediatric disorders - additional genes

Gene: COMMD4

No list
COMMD4 (COMM domain containing 4)
EnsemblGeneIds (GRCh38): ENSG00000140365
EnsemblGeneIds (GRCh37): ENSG00000140365
OMIM: 616701, Gene2Phenotype
COMMD4 is in 1 panel

1 review

Alexandra Njegic (Leeds Teaching Hospital Trust)

I don't know

PMID: 40601774 identified a homozygous missense variant in COMMD4 (p.Leu41Arg (L41R)) which was shown in vitro to decrease the steady-state abundance of COMMD4 when compared with the parental cells (shown with western blot analysis on HEK 293T cells carrying a-L41R knock-in, probands deceased and therefore no patient-derived sample available); knock-in cells also displayed reduced cell surface abundance of ITGB1 and LRP1 vs. wild-type cells in Western blotting, suggesting a defect in Commander-mediated cargo recycling. Article also ID variants in COMMD9 and CCDC93 to conclude that RSS is a recyclinopathy due to dysfunctional SNX17/Commander/WASH-mediated endosome recycling. Also as reported in DET1 submission, these proband were also homozygous for a variant in DET1 (c.76C>T, p.R26W).
Sources: Literature
Created: 16 Oct 2026, 3:24 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ritscher-Schinzel Syndrome

Publications

Mode of pathogenicity
Other

Created: 16 Oct 2026, 3:24 p.m.

Panel version: 8.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Ritscher-Schinzel Syndrome
OMIM
616701
Clinvar variants
Variants in COMMD4
Penetrance
unknown
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

16 Oct 2026, Gel status: 0

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

Alexandra Njegic (Leeds Teaching Hospital Trust)

gene: COMMD4 was added gene: COMMD4 was added to Paediatric disorders - additional genes. Sources: Literature Mode of inheritance for gene: COMMD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COMMD4 were set to 40601774; 39937864 Phenotypes for gene: COMMD4 were set to Ritscher-Schinzel Syndrome Penetrance for gene: COMMD4 were set to unknown Mode of pathogenicity for gene: COMMD4 was set to Other Review for gene: COMMD4 was set to AMBER