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Intellectual disability syndromic and non-syndromic

Gene: PPID

Red List (low evidence)

PPID (peptidylprolyl isomerase D)
EnsemblGeneIds (GRCh38): ENSG00000171497
EnsemblGeneIds (GRCh37): ENSG00000171497
OMIM: 601753, Gene2Phenotype
PPID is in 2 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 37977818 - a large family (10 affected confirmed to have the variant) with stuttering/language disorder and a het missense (p.(Pro270Ser)). Mouse K/I model showed microstructural changes in the corticospinal tract
Sources: Literature
Created: 7 Dec 2023, 1:21 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Stutter disorder, (MONDO:0000723), PPID-related

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Stutter disorder, (MONDO:0000723), PPID-related
OMIM
601753
Clinvar variants
Variants in PPID
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Dec 2023, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: ppid has been classified as Red List (Low Evidence).

7 Dec 2023, Gel status: 1

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

Elena Savva (Victorian Clinical Genetics Services)

gene: PPID was added gene: PPID was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: PPID was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPID were set to 37977818 Phenotypes for gene: PPID were set to Stutter disorder, (MONDO:0000723), PPID-related Review for gene: PPID was set to RED