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  2. Skeletal Dysplasia_Fetal
  3. EXTL3
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Skeletal Dysplasia_Fetal

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

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Disproportionate short stature with limb shortening and death in the neonatal period reported.
Sources: Literature
Created: 27 Oct 2022, 8:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunoskeletal dysplasia with neurodevelopmental abnormalities - MIM#617425

Publications

Created: 27 Oct 2022, 8:39 a.m.

Panel version: 0.154

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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

28 Oct 2022, 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).

28 Oct 2022, 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).

27 Oct 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: EXTL3 was added gene: EXTL3 was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXTL3 were set to PMID: 28132690 Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities - MIM#617425 Review for gene: EXTL3 was set to GREEN