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  3. EXTL3
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Fetal anomalies

Gene: EXTL3

Green List (high evidence)
EXTL3 (exostosin like glycosyltransferase 3)
EnsemblGeneIds (GRCh38): ENSG00000012232
EnsemblGeneIds (GRCh37): ENSG00000012232
OMIM: 605744, Gene2Phenotype
EXTL3 is in 7 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Created: 2 Nov 2021, 5:04 p.m. | Last Modified: 2 Nov 2021, 5:04 p.m.
Panel Version: 1.767
Created: 2 Nov 2021, 5:04 p.m.
Last Modified: 2 Nov 2021, 5:04 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott.

Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Skeletal dysplasia
Sources: Expert Review
Created: 29 Oct 2021, 3:23 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunoskeletal dysplasia with neurodevelopmental abnormalities

Created: 29 Oct 2021, 3:23 p.m.

Panel version: 1.749

Details

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

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_rating was removed from gene: EXTL3.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to EXTL3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

2 Nov 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: EXTL3.

2 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: extl3 has been classified as Amber List (Moderate Evidence).

2 Nov 2021, Gel status: 0

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: EXTL3 were set to

2 Nov 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

29 Oct 2021, Gel status: 0

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

Rhiannon Mellis (Great Ormond Street Hospital)

gene: EXTL3 was added gene: EXTL3 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities Review for gene: EXTL3 was set to GREEN