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  3. ARHGAP29
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Clefting disorders

Gene: ARHGAP29

Green List (high evidence)
ARHGAP29 (Rho GTPase activating protein 29)
EnsemblGeneIds (GRCh38): ENSG00000137962
EnsemblGeneIds (GRCh37): ENSG00000137962
OMIM: 610496, Gene2Phenotype
ARHGAP29 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

LoF variants reported in CL/P cohorts but reduced penetrance (~60%) observed.
Created: 30 Jan 2020, 5:21 a.m. | Last Modified: 30 Jan 2020, 5:21 a.m.
Panel Version: 0.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cleft palate; cleft lip

Publications

Created: 30 Jan 2020, 5:21 a.m.
Last Modified: 30 Jan 2020, 5:21 a.m.
Panel version: Imported from Clefts panel version 0.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Research
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Clefting disorder, MONDO:0000358, ARHGAP29-related
OMIM
610496
Clinvar variants
Variants in ARHGAP29
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ARHGAP29 were changed from cleft lip with or without cleft palate; Cleft palate to Clefting disorder, MONDO:0000358, ARHGAP29-related

6 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arhgap29 has been classified as Green List (High Evidence).

16 Sep 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ARHGAP29 was added gene: ARHGAP29 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services,Research Mode of inheritance for gene: ARHGAP29 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARHGAP29 were set to 23008150; 27369588; 25704602; 27350171; 25512736; 27033726; 28029220 Phenotypes for gene: ARHGAP29 were set to cleft lip with or without cleft palate; Cleft palate