Neurofibromatosis Type 1

Gene: FANCD2

Green List (high evidence)

FANCD2 (Fanconi anemia complementation group D2)
EnsemblGeneIds (GRCh38): ENSG00000144554
EnsemblGeneIds (GRCh37): ENSG00000144554
OMIM: 613984, Gene2Phenotype
FANCD2 is in 22 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)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia complementation group D2

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

Set publications

Alice Gardham (Genomics England)

Publications for FANCD2 were set to 11239453

2 Nov 2016, Gel status: 3

Added New Source

Alice Gardham (Genomics England)

FANCD2 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)

FANCD2 was created by agardham