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  3. NUP37
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Microcephaly

Gene: NUP37

Red List (low evidence)
NUP37 (nucleoporin 37)
EnsemblGeneIds (GRCh38): ENSG00000075188
EnsemblGeneIds (GRCh37): ENSG00000075188
OMIM: 609264, Gene2Phenotype
NUP37 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported with nephrotic syndrome and microcephaly.
Sources: Expert list
Created: 2 Apr 2021, 6:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 24, primary, autosomal recessive, MIM# 618179

Publications

Created: 2 Apr 2021, 6:43 a.m.

Panel version: 0.636

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Microcephaly 24, primary, autosomal recessive, MIM# 618179
OMIM
609264
Clinvar variants
Variants in NUP37
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nup37 has been classified as Red List (Low Evidence).

2 Apr 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NUP37 was added gene: NUP37 was added to Microcephaly. Sources: Expert list Mode of inheritance for gene: NUP37 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP37 were set to 30179222 Phenotypes for gene: NUP37 were set to Microcephaly 24, primary, autosomal recessive, MIM# 618179 Review for gene: NUP37 was set to RED