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Table 2 Previous disease associations for genetic variation in HNRNP genes

From: Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Gene

Disorder

Type of variation

HNRNPA1

ALS/FTL [8]

Multisystem proteinopathy [8, 9]

MIS

MIS

HNRNPA2/B1

ALS/FTLD [8, 9]

Multisystem proteinopathy [8, 9]

MIS

MIS

HNRNPA3

ALS/FTLD [8, 9]

Multisystem proteinopathy [8, 9]

MIS

MIS

HNRNPD/AUF1

4q21 microdeletion/duplication/triplication syndrome [10]

CNVs

HNRNPH1

HNRNPH1-related syndromic ID [11]

MIS20/small CNVs

HNRNPH2

Bain-type ID [12]

MIS20

HNRNPK

AKS/Okamoto syndrome [13, 14]

Kabuki syndrome [15,16,17]

LGD/MIS20/chromosomal deletions

MIS

HNRNPR

HNRNPR-related disorder [18]

LGD/MIS20

SYNCRIP/HNRNPQ

6q proximal deletions [19]

Chromosomal deletion

HNRNPP/FUS/TLS

ALS/FTLD [3]

LGD/MIS

HNRNPU

1q43q44 microdeletion syndrome [20]

HNRNPU-related disorder [20,21,22,23]

Chromosomal deletion

LGD/MIS20/chromosomal duplication

  1. MIS missense, MIS20 missense variants with CADD scores ≥ 20, indicating they are in the top 1% of likely pathogenic variants, CNVs copy number variants, LGD likely gene disrupting, ALS amyotrophic lateral sclerosis, FTLD frontotemporal lobar degeneration, ID intellectual disability, AKS Au-Kline syndrome
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Genome Medicine

ISSN: 1756-994X

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