Severe microcephaly
Gene: PSMC3

PSMC3 (proteasome 26S subunit, ATPase 3)
EnsemblGeneIds (GRCh38): ENSG00000165916
EnsemblGeneIds (GRCh37): ENSG00000165916
OMIM: 186852, Gene2Phenotype
PSMC3 is in 8 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

23 individuals with neurodevelopmental disorder were identified with 15 different de novo missense variants. Microcephaly was reported in in 6/17 (35%) cases, of which severe macrocephaly was in 2/16 (13%) cases.
Sources: Literature
Created: 14 Dec 2023, 7:43 p.m. | Last Modified: 14 Dec 2023, 7:44 p.m.

Panel Version: 4.47

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092; microcephaly, MONDO:0001149

Publications

37256937

Created: 14 Dec 2023, 7:43 p.m.
Last Modified: 14 Dec 2023, 7:44 p.m.
Panel version: 4.47

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Literature

Phenotypes

neurodevelopmental disorder, MONDO:0700092
microcephaly, MONDO:0001149

OMIM

186852

Clinvar variants

Variants in PSMC3

Penetrance

None

Publications

37256937

Panels with this gene

History Filter Activity

14 Dec 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: psmc3 has been classified as Amber List (Moderate Evidence).

14 Dec 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PSMC3 was added gene: PSMC3 was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: PSMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSMC3 were set to 37256937 Phenotypes for gene: PSMC3 were set to neurodevelopmental disorder, MONDO:0700092; microcephaly, MONDO:0001149 Review for gene: PSMC3 was set to AMBER

Severe microcephaly Gene: PSMC3