NSMCE2

NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase
OMIM: 617246, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Red NSMCE2 in Insulin resistance (including lipodystrophy) Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.18	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Dwarfism with extreme insulin resistance and acanthosis nigricans
No list NSMCE2 in Monogenic diabetes Level 2: Endocrinology Version 3.27 Latest signed off version: v3.26 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Dwarfism with extreme insulin resistance and acanthosis nigricans Tags curated_removed
Amber NSMCE2 in Severe microcephaly Level 2: Neurology Version 9.32 Latest signed off version: v9.13 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Other Phenotypes Seckel syndrome 10, OMIM:617253 Seckel syndrome, MONDO:0014991 Tags Q3_26_promote_green
Amber NSMCE2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.7 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Seckel syndrome 10, OMIM:617253 Seckel syndrome, MONDO:0014991 Tags Q3_26_promote_green