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Intellectual disability syndromic and non-syndromic

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)

12 individuals from 7 families reported.
Created: 9 Jan 2020, 12:25 a.m. | Last Modified: 9 Jan 2020, 12:25 a.m.
Panel Version: 0.1526

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
  • Genetic Health Queensland
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

9 Jan 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).

9 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EXTL3 were changed from to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425

9 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EXTL3 were set to

9 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: EXTL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EXTL3 was added gene: EXTL3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EXTL3 was set to Unknown