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  3. DLX4
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Clefting

Gene: DLX4

Amber List (moderate evidence)
DLX4 (distal-less homeobox 4)
EnsemblGeneIds (GRCh38): ENSG00000108813
EnsemblGeneIds (GRCh37): ENSG00000108813
OMIM: 601911, Gene2Phenotype
DLX4 is in 1 panel

3 reviews

Helen Brittain (Genomics England Curator)

I don't know

Only one family to date. Further evidence needed re causation
Created: 26 May 2017, 7:40 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
OROFACIAL CLEFT 15; OFC15

Created: 26 May 2017, 7:40 a.m.

Panel version: 0.193

Louise Daugherty (Genomics England Curator)

Comment on publications: Orofacial cleft-15 (OFC15) is caused by mutation in the DLX4 gene (601911) on chromosome 17q21. One such family has been reported.
Created: 24 Jan 2017, 3:18 p.m.
Created: 24 Jan 2017, 3:18 p.m.

Panel version: 0.107

Usha Kini (Oxford Centre for Genomic Medicine)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CLP

Created: 8 Dec 2016, 10:40 a.m.

Panel version: 0.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • ?Orofacial cleft 15, 616788
  • nonsyndromic cleft/lip palate (CL/P)
  • OROFACIAL CLEFT 15
  • OFC15
OMIM
601911
Clinvar variants
Variants in DLX4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

31 May 2017, Gel status: 2

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

26 May 2017, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

DLX4 was added to Cleftingpanel. Source: Expert Review Amber Model of inheritance for gene DLX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jan 2017, Gel status: 1

clearsources

Louise Daugherty (Genomics England Curator)

DLX4All sources for gene: DLX4 were removed

24 Jan 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene DLX4 were set to ?Orofacial cleft 15, 616788;nonsyndromic cleft/lip palate (CL/P)

24 Jan 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for DLX4 were set to 25954033

24 Jan 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for DLX4 were set to ?Orofacial cleft 15,616788; nonsyndromic cleft/lip palate (CL/P)

24 Jan 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for DLX4 were set to 25954033

24 Jan 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for DLX4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

18 Aug 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

DLX4 was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen

18 Aug 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

DLX4 was created by oniblock