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Skeletal dysplasia

Gene: EXTL3

Green List (high evidence)

EXTL3 (exostosin like glycosyltransferase 3)
EnsemblGeneIds (GRCh38): ENSG00000012232
EnsemblGeneIds (GRCh37): ENSG00000012232
OMIM: 605744, Gene2Phenotype
EXTL3 is in 6 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

not listed in SD nosology paper but cases reported by Oud et al 2017 have skeletal dysplasia: 7/9 cases have severe platyspondyly with disproportionate short stature.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425

Publications

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: EXTL3; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Ellen McDonagh (Genomics England Curator)

Gene added to panel as green after confirmation from the clinical team. There are more than 3 families reported for immunoskeletal dysplasia with neurodevelopmental abnormalities, with different variants.
Created: 18 Sep 2017, 10:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425
  • Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425
OMIM
605744
Clinvar variants
Variants in EXTL3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425 for gene: EXTL3

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to EXTL3. Rating Changed from Green List (high evidence) to Green List (high evidence)

18 Sep 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

18 Sep 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

EXTL3 was created by ellenmcdonagh

18 Sep 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

EXTL3 was added to Unexplained skeletal dysplasiapanel. Sources: Literature