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Clefting disorders
Gene: DLX4

DLX4 (distal-less homeobox 4)
EnsemblGeneIds (GRCh38): ENSG00000108813
EnsemblGeneIds (GRCh37): ENSG00000108813
OMIM: 601911, Gene2Phenotype
DLX4 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported and a SNP association study.
Created: 29 Jan 2021, 6:55 a.m. | Last Modified: 29 Jan 2021, 6:55 a.m.

Panel Version: 0.27

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Orofacial cleft 15, MIM# 616788

Publications

Created: 29 Jan 2021, 6:55 a.m.
Last Modified: 29 Jan 2021, 6:55 a.m.
Panel version: 0.27

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red

Phenotypes

Orofacial cleft 15, MIM# 616788

OMIM

Clinvar variants

Variants in DLX4

Penetrance

None

Publications

Panels with this gene

History Filter Activity

29 Jan 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dlx4 has been classified as Red List (Low Evidence).

29 Jan 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DLX4 were changed from nonsyndromic cleft/lip palate (CL/P); OFC15; OROFACIAL CLEFT 15; ?Orofacial cleft 15, 616788 to Orofacial cleft 15, MIM# 616788

29 Jan 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DLX4 were set to 25954033

29 Jan 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dlx4 has been classified as Red List (Low Evidence).

16 Sep 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DLX4 was added gene: DLX4 was added to Clefting_GEL. Sources: Expert Review Amber Mode of inheritance for gene: DLX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DLX4 were set to 25954033 Phenotypes for gene: DLX4 were set to nonsyndromic cleft/lip palate (CL/P); OFC15; OROFACIAL CLEFT 15; ?Orofacial cleft 15, 616788