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Craniosynostosis

Gene: ADAMTSL4

Green List (high evidence)
ADAMTSL4 (ADAMTS like 4)
EnsemblGeneIds (GRCh38): ENSG00000143382
EnsemblGeneIds (GRCh37): ENSG00000143382
OMIM: 610113, Gene2Phenotype
ADAMTSL4 is in 4 panels

2 reviews

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 28642162: reports a Dutch family with compound heterozygous monozygotic twins, both with craniosynostosis (CS) and ectopia lentis (EL).

PMID: 35378950: reports two additional unrelated families with CS and EL. Family 1’s proband is compound heterozygous. Family 2 has two homozygous affected siblings, however the older sister did not have CS (EL only).

Including the reports noted in the previous review for this gene (PMID: 22871183, PMID: 20702823), there are now a total of 5x unrelated families with craniosynostosis (CS) and ectopia lentis (EL) with intrafamilial variable expressivity. p.(Gln256Profs38) is a recurrent variant shared by all probands.
Created: 24 Jan 2023, 11:54 p.m. | Last Modified: 24 Jan 2023, 11:54 p.m.
Panel Version: 1.42

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Craniosynostosis with ectopia lentis MONDO#0011347, ADAMTSL4-related

Publications

Created: 24 Jan 2023, 11:54 p.m.
Last Modified: 24 Jan 2023, 11:54 p.m.
Panel version: 1.42

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Two cases with craniosynostosis and the same 20 bp deletion have been repeated, but cases with the same variant in the same family have been reported with ectopia lentis only.
Sources: Literature
Created: 10 Sep 2020, 2:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ectopia lentis et pupillae MIM#225200

Publications

Created: 10 Sep 2020, 2:54 a.m.

Panel version: 0.136

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ectopia lentis et pupillae MIM#225200
  • Craniosynostosis with ectopia lentis MONDO#0011347, ADAMTSL4-related
OMIM
610113
Clinvar variants
Variants in ADAMTSL4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jan 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADAMTSL4 were changed from Ectopia lentis et pupillae MIM#225200 to Ectopia lentis et pupillae MIM#225200; Craniosynostosis with ectopia lentis MONDO#0011347, ADAMTSL4-related

25 Jan 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ADAMTSL4 were set to 22871183; 20702823

25 Jan 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adamtsl4 has been classified as Green List (High Evidence).

10 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adamtsl4 has been classified as Red List (Low Evidence).

10 Sep 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ADAMTSL4 was added gene: ADAMTSL4 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: ADAMTSL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTSL4 were set to 22871183; 20702823 Phenotypes for gene: ADAMTSL4 were set to Ectopia lentis et pupillae MIM#225200 Review for gene: ADAMTSL4 was set to RED