NGS Panels Germline search all

Displaying 14,201 - 14,225 of 14,509

PRKDC

Immunodeficiency

AR

PSENEN

Acne inversa, familial, 2

AD

PSMB4

PSMB8

Nakajo-Nishimura syndrome, Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome, Autoinflammation, lipodystrophy, and dermatosis syndrome, Joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome

AR

PSTPIP1

Pyogenic sterile arthritis, pyoderma gangrenosum, and acne

AD

PTPRC

Severe combined immunodeficiency, , T-cell negative, B-cell positive, NK cell positive

AR

RAB27A

Griscelli syndrome, Elejalde syndrome

AR

RAC2

Neutrophil immunodeficiency syndrome

AD

RAG1

Omenn syndrome, Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, T cell-negative, B cell-negative, natural killer cell-positive severe combined immunodeficiency, Combined cellular and humoral immune defects with granulomas

AR

RAG2

Omenn syndrome, Combined cellular and humoral immune defects with granulomas

AR

RANBP2*

Encephalopathy, acute, infection-induced, 3, susceptibility to

AD

RASGRP1

Primary immunodeficiency

AR

RBCK1

Polyglucosan body myopathy

AR

RECQL4

Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndrome

AR

RELA*

Autoimmune lymphoproliferative syndrome

AD

RELB

Immunodeficiency 53

RFX5

Bare lymphocyte syndrome

AR

RFXANK

MHC class II deficiency

AR

RFXAP

Bare lymphocyte syndrome

AR

RHOH

T-cell immunodeficiency with epidermodysplasia verruciformis

AD/AR

RIPK1

Primary immunodeficiency

AD/AR

RLTPR

Combined immunodeficiency

AR

RMRP

Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasia

AR

RNASEH2A

Aicardi-Goutières syndrome

AR

RNASEH2B

Aicardi-Goutières syndrome

AR

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