Palmoplantar keratodermas

Gene: SDR9C7

Green List (high evidence)

SDR9C7 (short chain dehydrogenase/reductase family 9C member 7)
EnsemblGeneIds (GRCh38): ENSG00000170426
EnsemblGeneIds (GRCh37): ENSG00000170426
OMIM: 609769, Gene2Phenotype
SDR9C7 is in 7 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: SDR9C7; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 28 Jan 2019, 10:47 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • 617574
  • ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13
OMIM
609769
Clinvar variants
Variants in SDR9C7
Penetrance
None
Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to SDR9C7.

28 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: SDR9C7 was added gene: SDR9C7 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDR9C7 were set to 617574; ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13