Genes associated with neurologic abnormalities

Gene abbreviation	Full gene name	Inheritance	Disorder name/phenotype*
AK2	Adenylate kinase 2	AR	Reticular dysgenesis
ATM	ATM serine/threonine kinase	AR	Ataxia-telangiectasia
ATP6AP1	ATPase H+ transporting accessory protein 1	XLR	Congenital disorder of glycosylation type IIs
CHD7	Chromodomain helicase DNA-binding protein 7	AD	CHARGE syndrome
DNMT3B	DNA methyltransferase 3 beta	AR	Immunodeficiency-centromeric instability-facial anomalies syndrome 1
HELLS	Helicase, lymphoid specific	AR	Immunodeficiency-centromeric instability-facial anomalies syndrome 4
MRE11A	MRE11 homolog, double-strand break-repair nuclease	AR	Ataxia-telangiectasia-like disorder 1
NBN	Nibrin	AR	Nijmegen breakage syndrome
NFE2L2	Nuclear factor erythroid 2-like 2	AD	Immunodeficiency, developmental delay, and hypohomocysteinemia
PAX1	Paired box 1	AR	Otofaciocervical syndrome 2
PGM3	Phosphoglucomutase 3	AR	Immunodeficiency-vasculitis-myoclonus syndrome
PNP	Purine nucleoside phosphorylase	AR	Immunodeficiency due to purine nucleoside phosphorylase deficiency
POLD1	DNA-directed polymerase catalytic subunit 1	AR	POLD1 deficiency
RNF168	Ring finger protein 168	AR	RIDDLE syndrome
SMARCAL1	SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily alike 1	AR	Schimke immunoosseous dysplasia
STAT2	Signal transducer and activator of transcription 2	AR	STAT2 gain of function
TGFB1	Transforming growth factor beta 1	AR	Inflammatory bowel disease, immunodeficiency, and encephalopathy
TRNT1	tRNA nucleotidyl transferase 1	AR	Sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay
ZBTB24	Zinc finger and BTB domain-containing 24	AR	Immunodeficiency-centromeric instability-facial anomalies syndrome 2

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; 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 neurologic abnormalities