Segmental overgrowth disorders - Deep sequencing
Gene: PADI6The 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
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: LiteratureCreated: 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
Tag for-review was removed from gene: PADI6.
Source Expert Review Green was added to PADI6. Rating Changed from Red List (low evidence) to Green List (high evidence)
Tag for-review tag was added to gene: PADI6.
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