1. Panels
  2. Ichthyosis
  3. SDR9C7
STRs in panel
Prev Next
Regions in panel
Prev Next

Ichthyosis

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 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Three homozygous variants in 4 families with congenital ichthyosis.
Sources: Expert list
Created: 31 Jan 2020, 9:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis, congenital, autosomal recessive 13 MIM#617574

Publications

Created: 31 Jan 2020, 9:01 a.m.

Panel version: 0.21

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 13 MIM#617574
OMIM
609769
Clinvar variants
Variants in SDR9C7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sdr9c7 has been classified as Green List (High Evidence).

31 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sdr9c7 has been classified as Green List (High Evidence).

31 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SDR9C7 was added gene: SDR9C7 was added to Ichthyosis. Sources: Expert list Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDR9C7 were set to 28173123; 28369735 Phenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13 MIM#617574 Review for gene: SDR9C7 was set to GREEN