Neurofibromatosis Type 1

Gene: FANCC

Green List (high evidence)

FANCC (Fanconi anemia complementation group C)
EnsemblGeneIds (GRCh38): ENSG00000158169
EnsemblGeneIds (GRCh37): ENSG00000158169
OMIM: 613899, Gene2Phenotype
FANCC is in 21 panels

3 reviews

Helen Lindsay (Leeds Genetics Laboratory)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Mark Greenslade (Bristol Genetics Laboratory)

Green List (high evidence)

Helen Savage (Congenica Ltd)

Green List (high evidence)

~25% of patients show evidence of mosaicism
Created: 26 Jan 2016, 10:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia complementation group C

History Filter Activity

14 Nov 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Panel finalised 14th November 2016

2 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

2 Nov 2016, Gel status: 3

Added New Source

Alice Gardham (Genomics England)

FANCC was added to Neurofibromatosis Type 1panel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN

2 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

FANCC was created by agardham