This Panel is marked as Retired
A- or hypo-gammaglobulinaemia
Gene: EXTL3
EXTL3 (exostosin like glycosyltransferase 3)
EnsemblGeneIds (GRCh38): ENSG00000012232
EnsemblGeneIds (GRCh37): ENSG00000012232
OMIM: 605744, Gene2Phenotype
EXTL3 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000012232
EnsemblGeneIds (GRCh37): ENSG00000012232
OMIM: 605744, Gene2Phenotype
EXTL3 is in 7 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: 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, 10:03 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
-
- Expert Review Green
- Literature
- Phenotypes
-
- Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425
- OMIM
- 605744
- Clinvar variants
- Variants in EXTL3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
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 A- or hypo-gammaglobulinaemiapanel. Sources: Literature