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Mendeliome

Gene: NSMCE3

Amber List (moderate evidence)

NSMCE3 (NSE3 homolog, SMC5-SMC6 complex component)
EnsemblGeneIds (GRCh38): ENSG00000185115
EnsemblGeneIds (GRCh37): ENSG00000185115
OMIM: 608243, Gene2Phenotype
NSMCE3 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families, some functional data.
Created: 10 Jan 2020, 3:28 a.m. | Last Modified: 10 Jan 2020, 3:28 a.m.
Panel Version: 0.751

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241
OMIM
608243
Clinvar variants
Variants in NSMCE3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nsmce3 has been classified as Amber List (Moderate Evidence).

10 Jan 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NSMCE3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

10 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NSMCE3 were changed from to Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241

10 Jan 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NSMCE3 were set to

10 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nsmce3 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NSMCE3 was added gene: NSMCE3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NSMCE3 was set to Unknown