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  3. DCAF15
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Growth failure

Gene: DCAF15

Amber List (moderate evidence)
DCAF15 (DDB1 and CUL4 associated factor 15)
EnsemblGeneIds (GRCh38): ENSG00000132017
EnsemblGeneIds (GRCh37): ENSG00000132017
DCAF15 is in 6 panels

1 review

Chirag Patel (Genetic Health Queensland)

I don't know

ESHG 2023:
3 unrelated cases with CdLS (1 x TOP with MCA, 1 x death @20mths, 1 x living child)
Features suggestive of CdLS - DD, microcephaly, CHD, dysmorphism, visual/hearing impairment.

WES identified recurrent de novo variant (p.Ser470Phe) in DCAF15 gene. This mediates ubiquitination and degradation of target proteins, and interacts with cohesin complex members (SMC1/SMC3).

Protein analysis from individuals showed increased accumulation of ubiquitination-modified proteins and SM3 (GOF mechanism). EpiSign analysis showed same DNA methylation pattern as other CdLS cases/genes. Zebrafish model showed reduced body length, reduced head size, reduced oligodendrocytes, heart defect, aberrant motor neurons, and abnormal response to visual/auditory stimuli.
Sources: Other
Created: 25 Jul 2023, 1:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cornelia de Lange syndrome

Created: 25 Jul 2023, 1:11 a.m.

Panel version: 1.65

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related
Clinvar variants
Variants in DCAF15
Penetrance
None
Panels with this gene

History Filter Activity

25 Jul 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dcaf15 has been classified as Amber List (Moderate Evidence).

25 Jul 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DCAF15 were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related

25 Jul 2023, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: dcaf15 has been classified as Amber List (Moderate Evidence).

25 Jul 2023, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: DCAF15 was added gene: DCAF15 was added to Growth failure. Sources: Other Mode of inheritance for gene: DCAF15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCAF15 were set to Cornelia de Lange syndrome Review for gene: DCAF15 was set to AMBER