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  2. Clefting disorders
  3. PLEKHA5
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Clefting disorders

Gene: PLEKHA5

Amber List (moderate evidence)
PLEKHA5 (pleckstrin homology domain containing A5)
EnsemblGeneIds (GRCh38): ENSG00000052126
EnsemblGeneIds (GRCh37): ENSG00000052126
OMIM: 607770, Gene2Phenotype
PLEKHA5 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

One de novo variant reported, another 5 '3C' rare variants reported in 6 families in this cohort; unclear if monogenic or polygenic contribution to CL/P.
Created: 2 Apr 2020, 9:45 a.m. | Last Modified: 2 Apr 2020, 9:45 a.m.
Panel Version: 0.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
cleft lip; cleft palate

Publications

Created: 2 Apr 2020, 9:45 a.m.
Last Modified: 2 Apr 2020, 9:45 a.m.
Panel version: Imported from Clefts panel version 0.10

Tiong Tan (Victorian Clinical Genetics Services)

Green List (high evidence)

Sources: Literature
Created: 2 Apr 2020, 6:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
cleft lip; cleft palate

Publications

Created: 2 Apr 2020, 6:56 a.m.

Panel version: Imported from Clefts panel version 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
  • Literature
Phenotypes
  • Cleft lip and palate
OMIM
607770
Clinvar variants
Variants in PLEKHA5
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: plekha5 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: PLEKHA5 were changed from cleft lip to Cleft lip and palate

29 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plekha5 has been classified as Amber List (Moderate Evidence).

16 Sep 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLEKHA5 was added gene: PLEKHA5 was added to Clefting_GEL. Sources: Expert list,Expert Review Red Mode of inheritance for gene: PLEKHA5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PLEKHA5 were set to 29805042 Phenotypes for gene: PLEKHA5 were set to cleft lip