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Intellectual disability syndromic and non-syndromic

Gene: PPT1

Green List (high evidence)

PPT1 (palmitoyl-protein thioesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000131238
EnsemblGeneIds (GRCh37): ENSG00000131238
OMIM: 600722, Gene2Phenotype
PPT1 is in 14 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

DD/ID is a feature

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae7ebc05-9401-4932-afe2-a80e0d31e12f-2024-06-10T190000.000Z?page=1&size=25&search=
Created: 14 Nov 2024, 3:25 a.m. | Last Modified: 14 Nov 2024, 3:25 a.m.
Panel Version: 0.6714

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis, neuronal, 1 MIM#256730

Publications

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

History Filter Activity

14 Nov 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: PPT1 were changed from Ceroid lipofuscinosis, neuronal, 1 MIM#256730 to Ceroid lipofuscinosis, neuronal, 1 MIM#256730

14 Nov 2024, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: PPT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

14 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: ppt1 has been classified as Green List (High Evidence).

14 Nov 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: PPT1 were changed from to Ceroid lipofuscinosis, neuronal, 1 MIM#256730

14 Nov 2024, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: PPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

14 Nov 2024, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: PPT1 were set to

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PPT1 was added gene: PPT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PPT1 was set to Unknown