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| Ectodermal Dysplasia v0.89 | RSPO4 | Zornitza Stark Marked gene: RSPO4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.89 | RSPO4 | Zornitza Stark Gene: rspo4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.89 | RSPO4 | Zornitza Stark Classified gene: RSPO4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.89 | RSPO4 | Zornitza Stark Gene: rspo4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.86 | RSPO4 |
Paul De Fazio 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 Added comment: 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 |
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