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Autism

Gene: POGZ

Green List (high evidence)

POGZ (pogo transposable element derived with ZNF domain)
EnsemblGeneIds (GRCh38): ENSG00000143442
EnsemblGeneIds (GRCh37): ENSG00000143442
OMIM: 614787, Gene2Phenotype
POGZ is in 4 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Each gene in the SFARI Human Gene module has a dedicated entry summary page, see here for more info on this gene: https://gene.sfari.org/database/human-gene/POGZ Gene indicated by SFARI as predisposition to autism in the context of a syndromic disorder. The number of ASD-specific reports that implicate a gene compared to the total number of relevant non-ASD-specific reports that mention the gene. Autism reports / Total reports : 14 / 23
Created: 1 Apr 2019, 11:26 a.m.

Details

Sources
  • Expert Review Green
  • SFARI
Phenotypes
  • DD/NDD, EPS, ASD
OMIM
614787
Clinvar variants
Variants in POGZ
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene POGZ were changed from 22495311; 26942287; 25363768; 25363760; 22542183; 26739615; 26401017 to 20212079; 26185613; 23042784; 24267887; 26166478; 25989142; 24090431; 24581740; 26167905; 23999528; 25294932

1 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes DD/NDD, EPS, ASD for gene: POGZ

29 Mar 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene POGZ were changed from to 22495311; 26942287; 25363768; 25363760; 22542183; 26739615; 26401017

29 Mar 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

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

29 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: POGZ was added gene: POGZ was added to Autism. Sources: SFARI Mode of inheritance for gene: POGZ was set to