Coarse facial features including Coffin-Siris-like disorders

Gene: EXT2

Red List (low evidence)

EXT2 (exostosin glycosyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000151348
EnsemblGeneIds (GRCh37): ENSG00000151348
OMIM: 608210, Gene2Phenotype
EXT2 is in 15 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Only reported in one family in association with coarse facial features
Created: 23 Nov 2016, 10:26 a.m.

Alice Gardham (North West Thames Genetics)

Red List (low evidence)

Mutations only reported in one family with this phenotype
Created: 7 Feb 2016, 2:04 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Seizures, scoliosis and macrocephaly

History Filter Activity

23 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

7 Feb 2016, Gel status: 0

Created

Alice Gardham (North West Thames Genetics)

EXT2 was created by alicegardham

7 Feb 2016, Gel status: 0

Added New Source

Alice Gardham (North West Thames Genetics)

EXT2 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Literature