FICD

FIC domain protein adenylyltransferase
OMIM: 620875, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green FICD in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia 92, autosomal recessive, MIM# 620911

Amber FICD in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, FICD-related (MONDO#0700092)

Green FICD in Hereditary Spastic Paraplegia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia 92, autosomal recessive, MIM# 620911

Green FICD in Hereditary Neuropathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia 92, autosomal recessive, MIM# 620911

Amber FICD in Monogenic Diabetes


Level 2: Endocrine disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Monogenic diabetes, MONDO:0015967, FICD-related