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Intellectual disability syndromic and non-syndromic

Gene: PUS3

Green List (high evidence)

PUS3 (pseudouridylate synthase 3)
EnsemblGeneIds (GRCh38): ENSG00000110060
EnsemblGeneIds (GRCh37): ENSG00000110060
OMIM: 616283, Gene2Phenotype
PUS3 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Seven individuals from five families reported; two of the families had the same homozygous truncating variant. Variable features reported in addition to ID, including leukoencephalopathy, EE, and nephropathy.
Sources: Expert list
Created: 5 Jan 2020, 2:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with microcephaly and gray sclerae, MIM# 617051

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with microcephaly and gray sclerae, MIM# 617051
OMIM
616283
Clinvar variants
Variants in PUS3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Dec 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PUS3 were changed from Mental retardation, autosomal recessive 55, MIM# 617051 to Neurodevelopmental disorder with microcephaly and gray sclerae, MIM# 617051

5 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pus3 has been classified as Green List (High Evidence).

5 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pus3 has been classified as Green List (High Evidence).

5 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PUS3 was added gene: PUS3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list Mode of inheritance for gene: PUS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS3 were set to 30308082; 28454995; 27055666; 30697592; 31444731 Phenotypes for gene: PUS3 were set to Mental retardation, autosomal recessive 55, MIM# 617051 Review for gene: PUS3 was set to GREEN