Growth failure
Gene: PADI6EnsemblGeneIds (GRCh38): ENSG00000276747
EnsemblGeneIds (GRCh37): ENSG00000256049
OMIM: 610363, Gene2Phenotype
PADI6 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Maternal variants predispose to multi locus imprinting disturbance which can cause IUGR in the spectrum of SRS OR overgrowth in the spectrum of BWS. Mutations in the mother would lead to further investigation of methylation aberrations in the affected offspring/ products of conception.
Current trio filtering protocols may not account for this adequately.Created: 3 Sep 2021, 3:39 a.m. | Last Modified: 3 Sep 2021, 3:39 a.m.
Panel Version: 0.400
Mode of inheritance
Other
Phenotypes
IUGR
Publications
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Amber
- Genomics England PanelApp
- Phenotypes
-
- IUGR
- OMIM
- 610363
- Clinvar variants
- Variants in PADI6
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: padi6 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PADI6 were changed from miscarriages in the family; Preimplantation embryonic lethality 2 OMIM:617234; Short stature; preimplantation embryonic lethality 2 MONDO:0014978; Multi Locus Imprinting Disturbance; IUGR; Beckwith-Wiedemann syndrome to IUGR
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PADI6 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to Other
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PADI6 was added gene: PADI6 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber Mode of inheritance for gene: PADI6 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: PADI6 were set to 33221824; 32928291; 29574422 Phenotypes for gene: PADI6 were set to miscarriages in the family; Preimplantation embryonic lethality 2 OMIM:617234; Short stature; preimplantation embryonic lethality 2 MONDO:0014978; Multi Locus Imprinting Disturbance; IUGR; Beckwith-Wiedemann syndrome