Congenital Disorders of Glycosylation

Gene: EXTL3

Green List (high evidence)

EXTL3 (exostosin like glycosyltransferase 3)
EnsemblGeneIds (GRCh38): ENSG00000012232
EnsemblGeneIds (GRCh37): ENSG00000012232
OMIM: 605744, Gene2Phenotype
EXTL3 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

EXTL3 is a glycosyltransferase involved in the synthesis of heparin and heparan sulfate. 8 unrelated families reported with skeletal dysplasia +/- immune deficiency and neurodevelopmental abnormalities.
Sources: Expert Review
Created: 26 Nov 2020, 2:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425
OMIM
605744
Clinvar variants
Variants in EXTL3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: extl3 has been classified as Green List (High Evidence).

26 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: extl3 has been classified as Green List (High Evidence).

26 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EXTL3 was added gene: EXTL3 was added to Congenital Disorders of Glycosylation. Sources: Expert Review Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXTL3 were set to 28132690; 28148688; 28331220 Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425 Review for gene: EXTL3 was set to GREEN