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Severe microcephaly

Gene: PUS7

No list

PUS7 (pseudouridylate synthase 7 (putative))
EnsemblGeneIds (GRCh38): ENSG00000091127
EnsemblGeneIds (GRCh37): ENSG00000091127
OMIM: 616261, Gene2Phenotype
PUS7 is in 4 panels

1 review

Zornitza Stark (Australian Genomics)

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.
Sources: Expert list
Created: 3 Sep 2020, 3:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
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

3 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: PUS7 was added gene: PUS7 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS7 were set to 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 gene: PUS7 was marked as current diagnostic