Genes associated with abnormal hair and inborn errors of immunity

Gene abbreviation	Full gene name	Inheritance	Disorder name/phenotype*
BLOC1S6	Biogenesis of lysosomal organelles complex 1 subunit 6	AR	Hermansky-Pudlak syndrome 9
DKC1	Dyskerin pseudouridine synthase 1	XLR	Dyskeratosis congenita, X-linked
LYST	Lysosomal trafficking regulator	AR	Chediak-Higashi syndrome
NHP2 (NOLA2)	NHP2 ribonucleoprotein	AR	Dyskeratosis congenita, autosomal recessive 2
NOP10 (NOLA3)	NOP10 ribonucleoprotein	AR	Dyskeratosis congenita, autosomal recessive 1
PARN	Poly(A)-specific ribonuclease	AR	Dyskeratosis congenita, autosomal recessive 6
RAB27A	RAB27A, member RAS oncogene family	AR	Griscelli syndrome, type 2
RMRP	RNA component of mitochondrial RNA processing endoribonuclease	AR	Cartilage-hair hypoplasia
RTEL1	Regulator of telomere elongation helicase 1	AR	Dyskeratosis congenita, autosomal recessive 5
SKIV2L	SKI2-like RNA helicase	AR	Trichohepatoenteric syndrome 2
SPINK5	Serine peptidase inhibitor, Kazal type 5	AR	Netherton syndrome/ichthyosiform erythroderma with hypotrichosis and hyper-IgE
TERC	Telomerase RNA component	AD	Dyskeratosis congenita, autosomal dominant 1
TERT	Telomerase reverse transcriptase	AD, AR	Dyskeratosis congenita, autosomal dominant 2/dyskeratosis congenita, autosomal recessive 4
TINF2	TERF1 interacting nuclear factor 2	AD	Dyskeratosis congenita, autosomal dominant 3

Clinical signs may be present that warrant evaluation for the presence of primary immunodeficiency. Please note that the above table is not comprehensive.

AR: autosomal recessive; XLR: X-linked recessive; IgE: immunoglobulin E; AD: autosomal dominant; OMIM: Online Mendelian Inheritance in Man.
* The phenotypic descriptions were derived from OMIM phenotype labels.

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Genes associated with abnormal hair and inborn errors of immunity