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Prepair 1000+

Gene: PUS7

Red List (low evidence)

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

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Details

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

History Filter Activity

1 Jun 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PUS7 was added gene: PUS7 was added to Reproductive Carrier Screen_VCGS. Sources: Expert list Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS7 were set to 30526862; 31583274; 30778726 Phenotypes for gene: PUS7 were set to OMIM #618342; Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature