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Achromatopsia
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Prepair 1000+
Prepair 500+
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Retinitis Pigmentosa Superpanel
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Severe Combined Immunodeficiency (absent T present B cells)
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Short Long Bones with Advanced Carpal Bone Age
Short QT syndrome
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Stickler Syndrome
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TCGA_PANCAN_2018
Transplant Co-Morbidity Superpanel
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Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
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Usher Syndrome
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Vascular Malformations SuperPanel
Vasculitis
Ventricular Fibrillation
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Wilms Tumour Predisposition
Version
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0.2
Gene or Genomic Entity Name
PALB2
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07 Jan 2020
NCGC v0.0
PALB2
Lavinia Gordon gene: PALB2 was added
gene: PALB2 was added to NCGC. Sources: NCGC
Mode of inheritance for gene: PALB2 was set to Other
Phenotypes for gene: PALB2 were set to Fanconi anemia, complementation group N