Ectodermal Dysplasia

Gene: RSPO4

Green List (high evidence)

RSPO4 (R-spondin 4)
EnsemblGeneIds (GRCh38): ENSG00000101282
EnsemblGeneIds (GRCh37): ENSG00000101282
OMIM: 610573, Gene2Phenotype
RSPO4 is in 2 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

Congenital anonychia is defined as the absence of fingernails and toenails. Anonychia and its milder phenotypic variant, hyponychia, usually occur as a feature of genetic syndromes, in association with significant skeletal and limb anomalies. Isolated nonsyndromic congenital anonychia/hyponychia is a rare entity that usually follows autosomal recessive inheritance with variable expression, even within a given family. The nail phenotypes observed range from no nail field to a nail field of reduced size with an absent or rudimentary nail (summary by Bruchle et al., 2008). This form of nail disorder is referred to here as nonsyndromic congenital nail disorder-4 (NDNC4).

Multiple families with homozygous or compound heterozygous variants, in consanguineous and non-consanguineous families.
Sources: Literature
Created: 19 Sep 2024, 12:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anonychia congenita MIM# 206800

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Anonychia congenita MIM# 206800
OMIM
610573
Clinvar variants
Variants in RSPO4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rspo4 has been classified as Green List (High Evidence).

14 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rspo4 has been classified as Green List (High Evidence).

19 Sep 2024, Gel status: 0

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

Paul De Fazio (Victorian Clinical Genetics Services)

gene: RSPO4 was added gene: RSPO4 was added to Ectodermal Dysplasia. Sources: Literature Mode of inheritance for gene: RSPO4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSPO4 were set to 17041604; 17914448; 18070203 Phenotypes for gene: RSPO4 were set to Anonychia congenita MIM# 206800 Review for gene: RSPO4 was set to GREEN gene: RSPO4 was marked as current diagnostic