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  3. FANCD2
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Structural eye disease

Gene: FANCD2

Red List (low evidence)
FANCD2 (Fanconi anemia complementation group D2)
EnsemblGeneIds (GRCh38): ENSG00000144554
EnsemblGeneIds (GRCh37): ENSG00000144554
OMIM: 613984, Gene2Phenotype
FANCD2 is in 21 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

Houghtaling reported that FANCD2 mutant mice have microphthalmia. No reported cases found.
Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91

Publications

Created: 2 Oct 2019, 3:48 p.m.
Last Modified: 2 Oct 2019, 3:48 p.m.
Panel version: 0.91

Mariya Moosajee (Moorfields Eye Hospital)

Green List (high evidence)

Phenotypes
Fanconi Anemia, Complementation Group D2, FANCD2

Created: 23 Apr 2019, 2:12 p.m.

Panel version: 0.60

History Filter Activity

1 Oct 2019, Gel status: 1

Added New Source, Added New Source, Set publications, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to FANCD2. Source Expert Review Red was added to FANCD2. Publications for gene FANCD2 were changed from to 12893777 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

16 Sep 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to FANCD2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

23 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: FANCD2 was added gene: FANCD2 was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCD2 were set to Fanconi Anemia, Complementation Group D2, FANCD2, 227646