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Segmental overgrowth disorders - Deep sequencing

Gene: PADI6

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

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.
Created: 11 Dec 2025, 4:52 p.m. | Last Modified: 11 Dec 2025, 4:52 p.m.
Panel Version: 4.3
Created: 11 Dec 2025, 4:52 p.m.
Last Modified: 11 Dec 2025, 4:52 p.m.
Panel version: 4.3

Tom Cullup (Great Ormond Street Hospital)

Red List (low evidence)

Recommend removing this gene from R110 - biallelic maternal effect variants cause disease, therefore unable to make diagnoses via proband testing via R110. PADI6 is on the MLID panel R417.2 - which appropriately uses maternal rather than proband samples for testing.
Created: 31 Mar 2025, 1:09 p.m. | Last Modified: 31 Mar 2025, 1:09 p.m.
Panel Version: 3.19

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 31 Mar 2025, 1:09 p.m.
Last Modified: 31 Mar 2025, 1:09 p.m.
Panel version: 3.19

Catherine Snow (Genomics England)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.Submitted on behalf of NHS GMS "can cause Beckwith-Wiedemann syndrome (e.g. Cubellis et al. Clin Epigenetcs 2020) - although clearly complex pathobiology."
Created: 14 Mar 2022, 6:34 p.m. | Last Modified: 14 Mar 2022, 6:34 p.m.
Panel Version: 2.16
Created: 14 Mar 2022, 6:34 p.m.
Last Modified: 14 Mar 2022, 6:34 p.m.
Panel version: 2.16

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Based on review given by Tom Cullup (Great Ormond Street Hospital), PADI6 is not relevant to this panel (Segmental overgrowth disorders - Deep sequencing) and should be demoted to Red. PADI6 variants will be identified using the Multi locus imprinting disorders (R417.2) panel, where this gene is Green.
Created: 2 Apr 2025, 11:20 a.m. | Last Modified: 2 Apr 2025, 11:20 a.m.
Panel Version: 3.19
PMID: 32928291 reports three variants associated with Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance in three cases. Five variants have also been associated with Preimplantation embryonic lethality 2, where they have been biallelic in the women affected (pmid 27545678). There is enough evidence for this gene to be reviewed at the next major review.
Created: 22 Dec 2020, 4:54 p.m. | Last Modified: 22 Dec 2020, 4:54 p.m.
Panel Version: 2.8
Sources: Literature
Created: 22 Dec 2020, 4:41 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Phenotypes
Preimplantation embryonic lethality 2 OMIM:617234; Beckwith-Wiedemann syndrome

Publications

Created: 22 Dec 2020, 4:41 p.m.

Panel version: 3.19

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • NHS GMS
  • Expert Review Red
  • Literature
Phenotypes
  • Preimplantation embryonic lethality 2 OMIM:617234
  • Beckwith-Wiedemann syndrome
OMIM
610363
Clinvar variants
Variants in PADI6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2025, Gel status: 1

Removed Tag, Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_25_ demote_red was removed from gene: PADI6. Tag Q2_25_expert_review was removed from gene: PADI6.

11 Dec 2025, Gel status: 1

Added New Source, Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to PADI6. Source NHS GMS was added to PADI6. Rating Changed from Green List (high evidence) to Red List (low evidence)

2 Apr 2025, Gel status: 3

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_25_ demote_red tag was added to gene: PADI6. Tag Q2_25_expert_review tag was added to gene: PADI6.

14 Mar 2022, Gel status: 3

Removed Tag

Catherine Snow (Genomics England)

Tag for-review was removed from gene: PADI6.

14 Mar 2022, Gel status: 3

Added New Source, Status Update

Catherine Snow (Genomics England)

Source Expert Review Green was added to PADI6. Rating Changed from Red List (low evidence) to Green List (high evidence)

22 Dec 2020, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: PADI6.

22 Dec 2020, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: PADI6 was added gene: PADI6 was added to Segmental overgrowth disorders. Sources: Literature Mode of inheritance for gene: PADI6 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: PADI6 were set to 32928291; 33221824 Phenotypes for gene: PADI6 were set to Preimplantation embryonic lethality 2 OMIM:617234; Beckwith-Wiedemann syndrome Review for gene: PADI6 was set to AMBER