NGS Panels Germline search all

Displaying 426 - 450 of 14,509

GATA2

Myelodysplastic syndrome, Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia, Acute myeloid leukemia, Emberger syndrome, Immunodeficiency

AD

GAS8

Ciliary dyskinesia, primary, 33

AR

GAS2L2

Primary ciliary dyskinesia

AR

G6PD

Glucose-6-phosphate dehydrogenase deficiency

XL

G6PC3

Neutropenia, severe congenital, Dursun syndrome

AR

G6PC

Glycogen storage disease

AR

FOXP3

Immunodysregulation, polyendocrinopathy, and enteropathy

XL

FOXN1

T-cell immunodeficiency, congenital alopecia, and nail dystrophy

AD/AR

FERMT3

Leukocyte adhesion deficiency

AR

FCHO1

Common variable immunodeficiency

AR

FCGR3A*

Immunodeficiency 20

AR

FAT4

Van Maldergem syndrome 2

AR

FASLG

Autoimmune lymphoproliferative syndrome, type IB

AD

FAS

Autoimmune lymphoproliferative syndrome

AD/AR

FANCA

Fanconi anemia

AR

FADD

Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations

AR

EXTL3

Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA)

AR

ERCC6L2

Bone marrow failure syndrome 2

AR

EPG5

Vici syndrome

AR

ELANE

Neutropenia

AD

EFL1*

Shwachman-Diamond syndrome

DYX1C1

Ciliary dyskinesia

AR

DSG1

Severe dermatitis, multiple allergies, and metabolic wasting syndrome (SAM syndrome), Keratosis palmoplantaris striata I

AD/AR

DRC1

Primary ciliary dyskinesia

AR

DOCK8

Hyper-IgE recurrent infection syndrome, Mental retardation, autosomal dominant 2

AR

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