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  3. NSMCE2
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Microcephaly

Gene: NSMCE2

Amber List (moderate evidence)
NSMCE2 (NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase)
EnsemblGeneIds (GRCh38): ENSG00000156831
EnsemblGeneIds (GRCh37): ENSG00000156831
OMIM: 617246, Gene2Phenotype
NSMCE2 is in 2 panels

1 review

Tiong Tan (Victorian Clinical Genetics Services)

I don't know

Biallelic hypomorphic variants in two unrelated women with microcephalic primordial dwarfism, insulin-resistant diabetes, fatty liver, and hypertriglyceridemia developing in childhood; and primary gonadal failure. Good quality functional evidence. No additional confirmatory cases since 2014 publication
Sources: Literature
Created: 2 Apr 2020, 12:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SECKEL SYNDROME 10

Publications

Created: 2 Apr 2020, 12:16 p.m.

Panel version: 0.105

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • SECKEL SYNDROME 10
OMIM
617246
Clinvar variants
Variants in NSMCE2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nsmce2 has been classified as Amber List (Moderate Evidence).

2 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: nsmce2 has been classified as Amber List (Moderate Evidence).

2 Apr 2020, Gel status: 1

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

Tiong Tan (Victorian Clinical Genetics Services)

gene: NSMCE2 was added gene: NSMCE2 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: NSMCE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSMCE2 were set to 25105364 Phenotypes for gene: NSMCE2 were set to SECKEL SYNDROME 10 Penetrance for gene: NSMCE2 were set to Complete Review for gene: NSMCE2 was set to AMBER