PLXNA1

plexin A1
OMIM: 601055, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red PLXNA1 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955

Amber PLXNA1 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related

Green PLXNA1 in Mendeliome


Version 2.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955
  • Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related

Green PLXNA1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955

Green PLXNA1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955