Craniosynostosis

Gene: ADAMTSL4

Red List (low evidence)

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

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

2 published cases with CSS as documented in Twigg&Wilkie AJHG 15 ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ectopia lentis -225200/225100

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ADAMTSL4; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.

Andrew Wilkie (University of Oxford)

Red List (low evidence)

craniosynostosis described in single case report
Created: 14 Sep 2015, 12:35 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ectopia lentis

Publications

Details

Sources
  • NHS GMS
  • Expert Review Red
  • Expert list
Phenotypes
  • Ectopia lentis 225200/225100
OMIM
610113
Clinvar variants
Variants in ADAMTSL4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 May 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: ADAMTSL4 were set to

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Ectopia lentis 225200/225100 for gene: ADAMTSL4

5 Mar 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to ADAMTSL4.

1 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 Jul 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

ADAMTSL4 was added to Craniosynostosis syndromespanel. Sources: Expert list