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  2. Autosomal recessive congenital ichthyosis
  3. SDR9C7
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Autosomal recessive congenital 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 7 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P. At least 3 variants reported in three unrelated families with Autosomal Recessive Congenital Ichthyosis. Supporting functional studies also included in PMID 28173123
Created: 17 Aug 2017, 4:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis, congenital, autosomal recessive 13 617574

Publications

Created: 17 Aug 2017, 4:02 p.m.

Panel version: 1.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 13 617574
OMIM
609769
Clinvar variants
Variants in SDR9C7
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Aug 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

SDR9C7 was added to Autosomal recessive congenital ichthyosispanel. Sources: Literature

17 Aug 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SDR9C7 was created by sleigh