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Intellectual disability syndromic and non-syndromic

Gene: PUS7

Green List (high evidence)

PUS7 (pseudouridylate synthase 7 (putative))
EnsemblGeneIds (GRCh38): ENSG00000091127
EnsemblGeneIds (GRCh37): ENSG00000091127
OMIM: 616261, Gene2Phenotype
PUS7 is in 6 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

11 patients from 6 families with ID, speech delay, short stature, microcephaly, and aggressive behavior, with homozygous PUS7 mutations, which segregated with disease.

One study showed disease-related variants lead to abolishment of PUS7 activity on both tRNA and mRNA substrates. pus7 knockout in Drosophila melanogaster results in a number of behavioral defects, including increased activity, disorientation, and aggressiveness supporting that neurological defects are caused by PUS7 variants.
Sources: Literature
Created: 11 Dec 2019, 5:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature; OMIM #618342

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • OMIM #618342
OMIM
616261
Clinvar variants
Variants in PUS7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pus7 has been classified as Green List (High Evidence).

11 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: pus7 has been classified as Green List (High Evidence).

11 Dec 2019, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: PUS7 was added gene: PUS7 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS7 were set to PMID: 30526862; 30778726; 31583274 Phenotypes for gene: PUS7 were set to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature; OMIM #618342 Review for gene: PUS7 was set to GREEN