1. Panels
  2. Clefting disorders
  3. PLEKHA7
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Clefting disorders

Gene: PLEKHA7

Amber List (moderate evidence)
PLEKHA7 (pleckstrin homology domain containing A7)
EnsemblGeneIds (GRCh38): ENSG00000166689
EnsemblGeneIds (GRCh37): ENSG00000166689
OMIM: 612686, Gene2Phenotype
PLEKHA7 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Six rare variants identified in 4 individuals in a CL/P cohort, however, only one of these classified as likely pathogenic. One individual had bi-allelic variants. Some supportive functional data.
Created: 29 Jan 2021, 3:47 a.m. | Last Modified: 29 Jan 2021, 3:47 a.m.
Panel Version: 0.16

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cleft palate

Publications

Created: 29 Jan 2021, 3:47 a.m.
Last Modified: 29 Jan 2021, 3:47 a.m.
Panel version: 0.16

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Cleft lip and palate
OMIM
612686
Clinvar variants
Variants in PLEKHA7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plekha7 has been classified as Amber List (Moderate Evidence).

29 Jan 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PLEKHA7 were changed from cleft lip to Cleft lip and palate

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: PLEKHA7 was added gene: PLEKHA7 was added to Clefting_GEL. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: PLEKHA7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PLEKHA7 were set to 29805042 Phenotypes for gene: PLEKHA7 were set to cleft lip