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Mendeliome

Gene: PADI6

Green List (high evidence)

PADI6 (peptidyl arginine deiminase 6)
EnsemblGeneIds (GRCh38): ENSG00000276747
EnsemblGeneIds (GRCh37): ENSG00000256049
OMIM: 610363, Gene2Phenotype
PADI6 is in 3 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Most reported individuals with recurrent early embryonic arrest or mothers of children with MLID have been found to carry biallelic pathogenic variants in this gene. A minority have only been found to carry a heterozygous variant only. A relationship between zygosity and severity of the condition has not been definitively established.

As is the case for other genes encoding components of the subcortical maternal complex (SCMC), the pathogenicity of variants can be difficult to establish as reproductive outcomes are not recorded in genomic databases and variants may be listed in population databases as they are not classed as pathogenic in males or women with no reproductive history.

Functional studies of genes encoding components of the SCMC are limited as their expression is restricted to the oocyte and early embryo.

Two individuals with biallelic pathogenic variants in PADI6 and recurrent hydatiform mole have now been reported (PMID: 29693651; 33583041). These could not be definitively classified as either partial or complete hydatiform moles.
Created: 30 Mar 2022, 12:12 a.m. | Last Modified: 30 Mar 2022, 12:12 a.m.
Panel Version: 0.12285

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Pre-implantation embryonic lethality 2 MIM#617234; Multi locus imprinting disturbance in offspring; Recurrent hydatiform mole

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pre-implantation embryonic lethality 2 MIM#617234
  • Multi locus imprinting disturbance in offspring
  • Recurrent hydatiform mole
OMIM
610363
Clinvar variants
Variants in PADI6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: padi6 has been classified as Green List (High Evidence).

31 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PADI6 were changed from to Pre-implantation embryonic lethality 2 MIM#617234; Multi locus imprinting disturbance in offspring; Recurrent hydatiform mole

31 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PADI6 were set to

31 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PADI6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PADI6 was added gene: PADI6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PADI6 was set to Unknown