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  2. Neurofibromatosis Type 1
  3. FANCC
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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

Created: 5 Nov 2017, 2:46 a.m.

Panel version: Imported from "Non-Fanconi anaemia" panel version 0

Mark Greenslade (Bristol Genetics Laboratory)

Green List (high evidence)

Created: 5 Nov 2017, 2:46 a.m.

Panel version: Imported from "Non-Fanconi anaemia" panel version 0

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

Created: 26 Jan 2016, 10:57 a.m.

Panel version: Imported from "Non-Fanconi anaemia" panel version 0.228

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