NSMF

NMDA receptor synaptonuclear signaling and neuronal migration factor
OMIM: 608137, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red NSMF in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.27

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838

Red NSMF in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838

Red NSMF in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.578

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838

Red NSMF in Pituitary hormone deficiency

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.166

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
  • Expert list
  • Expert list
Phenotypes
  • Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838

Red NSMF in Hypogonadotropic hypogonadism

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.74

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
  • Expert Review Red
  • Expert list
Phenotypes
  • Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838