Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: EXTL3

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

A recessive variant in EXTL3 (c.2392G>A; p.Val798Met) was identified in a patient with metopic craniosynostosis, intellectual disability, short stature, microcephaly, hip dysplasia, kyphosis, delayed skeletal age and immunodeficiency. The variant is absent from gnomAD and affects the glycosyl transferase family 64 domain (PMID:35080095).

Craniosynostosis has been recorded as part of the phenotype in OMIM (MIM #617425).
Sources: Literature
Created: 20 Jul 2023, 12:18 p.m. | Last Modified: 20 Jul 2023, 12:21 p.m.

Panel Version: 4.123

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425

Publications

Created: 20 Jul 2023, 12:18 p.m.
Last Modified: 20 Jul 2023, 12:21 p.m.
Panel version: 4.123

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Literature

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

20 Jul 2023, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: EXTL3 were changed from craniosynostosis, MONDO:0015469 to Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425

20 Jul 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: EXTL3 was added gene: EXTL3 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXTL3 were set to 35080095; 36980886 Phenotypes for gene: EXTL3 were set to craniosynostosis, MONDO:0015469 Review for gene: EXTL3 was set to RED

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: EXTL3