STRs in panel
Prev Next

Growth failure in early childhood

Gene: PNPLA6

Red List (low evidence)

PNPLA6 (patatin like phospholipase domain containing 6)
EnsemblGeneIds (GRCh38): ENSG00000032444
EnsemblGeneIds (GRCh37): ENSG00000032444
OMIM: 603197, Gene2Phenotype
PNPLA6 is in 17 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.
Created: 30 May 2019, 9:49 a.m.

History Filter Activity

30 May 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to PNPLA6. Rating Changed from Green List (high evidence) to Red List (low evidence)

14 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: PNPLA6 was added gene: PNPLA6 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA6 were set to 25480986 Phenotypes for gene: PNPLA6 were set to Oliver-Mcfarlane syndrome, Trichomegaly, GH deficiency, retinal dystrophy, hypogonadotrophic hypogonadism