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Intellectual disability syndromic and non-syndromic

Gene: PSMB1

Amber List (moderate evidence)

PSMB1 (proteasome subunit beta 1)
EnsemblGeneIds (GRCh38): ENSG00000008018
EnsemblGeneIds (GRCh37): ENSG00000008018
OMIM: 602017, Gene2Phenotype
PSMB1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two siblings reported with a homozygous missense variant in this gene; supportive experimental evidence including zebrafish model.
Sources: Literature
Created: 9 Jun 2020, 10:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; microcephaly

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability
  • microcephaly
OMIM
602017
Clinvar variants
Variants in PSMB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: psmb1 has been classified as Amber List (Moderate Evidence).

9 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: psmb1 has been classified as Amber List (Moderate Evidence).

9 Jun 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: PSMB1 was added gene: PSMB1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: PSMB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMB1 were set to 32129449 Phenotypes for gene: PSMB1 were set to Intellectual disability; microcephaly Review for gene: PSMB1 was set to AMBER