NUSAP1

nucleolar and spindle associated protein 1
OMIM: 612818, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber NUSAP1 in Severe microcephaly Level 2: Neurology Version 9.56 Latest signed off version: v9.13 (12 Aug 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes microcephaly(MONDO:0001149) neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities(MONDO:0030063) Tags Q4_26_promote_green
Amber NUSAP1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.26 Latest signed off version: v8.0 (12 Aug 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes microcephaly(MONDO:0001149) neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities(MONDO:0030063) Tags Q4_26_promote_green
Amber NUSAP1 in Early onset or syndromic epilepsy Level 2: Neurology Version 9.94 Latest signed off version: v9.56 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes microcephaly(MONDO:0001149) neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities(MONDO:0030063) Tags Q4_26_promote_green
Amber NUSAP1 in Intellectual disability Level 2: Developmental disorders Version 11.70 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes microcephaly(MONDO:0001149) neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities(MONDO:0030063) Tags Q4_26_promote_green