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This Panel is marked as Internal

Non-Fanconi anaemia
Gene: FANCD2

FANCD2 (Fanconi anemia complementation group D2)
EnsemblGeneIds (GRCh38): ENSG00000144554
EnsemblGeneIds (GRCh37): ENSG00000144554
OMIM: 613984, Gene2Phenotype
FANCD2 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, 2:40 a.m.

Panel version: 0

Mark Greenslade (Bristol Genetics Laboratory)

Green List (high evidence)

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia complementation group D2

Created: 26 Jan 2016, 11:05 a.m.

Panel version: 0.228

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert list
UKGTN
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Fanconi Anemia
Fanconi anemia, complementation group D2, 227646
Fanconi anemia

OMIM

Clinvar variants

Variants in FANCD2

Penetrance

Complete

Panels with this gene

History Filter Activity

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCD2 was added to Non-Fanconi anaemiapanel. Source: Expert list

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCD2 was added to Non-Fanconi anaemiapanel. Source: UKGTN

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCD2 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCD2 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCD2 was added to Non-Fanconi anaemiapanel. Source: UKGTN

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCD2 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCD2 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services

15 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FANCD2 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FANCD2 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FANCD2 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FANCD2 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FANCD2 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FANCD2 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FANCD2 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCD2 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

15 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FANCD2 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCD2 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

15 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCD2 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN