Coarse facial features including Coffin-Siris-like disorders

Gene: SLCO2A1

Red List (low evidence)

SLCO2A1 (solute carrier organic anion transporter family member 2A1)
EnsemblGeneIds (GRCh38): ENSG00000174640
EnsemblGeneIds (GRCh37): ENSG00000174640
OMIM: 601460, Gene2Phenotype
SLCO2A1 is in 3 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Thickening of facial skin in adulthood giving coarse appearance. Unlikely to present with coarse facial features
Created: 24 Nov 2016, 11:10 a.m.

Alice Gardham (North West Thames Genetics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary autosomal recessive hypertrophic osteoarthropathy/ pachydermoperiostosis, 614441

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Hypertrophic osteoarthropathy
OMIM
601460
Clinvar variants
Variants in SLCO2A1
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

14 Nov 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

30 Jan 2016, Gel status: 0

Created

Alice Gardham (North West Thames Genetics)

SLCO2A1 was created by alicegardham

30 Jan 2016, Gel status: 0

Added New Source

Alice Gardham (North West Thames Genetics)

SLCO2A1 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Literature