Palmoplantar Keratoderma and Erythrokeratoderma
Gene: SDR9C7EnsemblGeneIds (GRCh38): ENSG00000170426
EnsemblGeneIds (GRCh37): ENSG00000170426
OMIM: 609769, Gene2Phenotype
SDR9C7 is in 3 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 30578701;
3 unrelated patients from consanguineous families with congenital ichthyosiform erythroderma
PMID: 31633189;
All 3 reported patients had mild PPK including 1x born with scaly skin with erythroderma at birth
Sources: LiteratureCreated: 19 Aug 2020, 1:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ichthyosis, congenital, autosomal recessive 13 (MIM#617574)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Ichthyosis, congenital, autosomal recessive 13 (MIM#617574)
- OMIM
- 609769
- Clinvar variants
- Variants in SDR9C7
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sdr9c7 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sdr9c7 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)gene: SDR9C7 was added gene: SDR9C7 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDR9C7 were set to 30578701; 31633189 Phenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13 (MIM#617574) Penetrance for gene: SDR9C7 were set to unknown Review for gene: SDR9C7 was set to GREEN