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  3. PLEKHA7
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Clefting

Gene: PLEKHA7

Amber List (moderate evidence)
PLEKHA7 (pleckstrin homology domain containing A7)
EnsemblGeneIds (GRCh38): ENSG00000166689
EnsemblGeneIds (GRCh37): ENSG00000166689
OMIM: 612686, Gene2Phenotype
PLEKHA7 is in 1 panel

1 review

Catherine Snow (Genomics England)

I don't know

PMID: 29805042 Cox et al. Identified PLEKHA7 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 likely pathogenic variant (chr11:g.16838582C>T;p.Gly544Asp) was identified in one family. Further analysis of 497 individuals identified a likely pathogenic variant and another variant of unknown significance both variants were found in the same family (chr11:g.16838676G>A;p.Arg513Trp and chr11:g.16834682T>C;p.Asp662Gly), a further variant of unknown significance was identified in another family. PLEKHA7 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.
Created: 22 Aug 2019, 4:02 p.m. | Last Modified: 22 Aug 2019, 4:26 p.m.
Panel Version: 1.49
Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list
Created: 22 Aug 2019, 3:38 p.m.

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

Phenotypes
cleft lip

Publications

Created: 22 Aug 2019, 3:38 p.m.
Last Modified: 22 Aug 2019, 4:26 p.m.
Panel version: 1.45

Details

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

History Filter Activity

22 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

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

22 Aug 2019, Gel status: 1

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

Catherine Snow (Genomics England)

gene: PLEKHA7 was added gene: PLEKHA7 was added to Clefting. Sources: Expert list 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 Review for gene: PLEKHA7 was set to AMBER