FSCN2

fascin actin-bundling protein 2, retinal
OMIM: 607643, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red FSCN2 in Mendeliome


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 30 MIM#607921
  • Macular degeneration

Red FSCN2 in Retinitis pigmentosa


Level 2: Ophthalmological disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Royal Melbourne Hospital
  • Royal Melbourne Hospital
  • Expert Review Red
  • Royal Melbourne Hospital
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 30 MIM#607921
  • Macular degeneration

Red FSCN2 in Macular Dystrophy/Stargardt Disease


Level 2: Ophthalmological disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 30 MIM#607921
  • Macular degeneration

Red FSCN2 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Retinitis pigmentosa

Red FSCN2 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Retinitis pigmentosa