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Table 2 Genes present in the 6p25.3 deleted region and 6p25.3p25.2 duplicated region

From: Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin

Gene Description Gene type %HI Imprinting status Known syndromes/diseases ID of OMIM
Genes present in the 6p25.3 deleted region
DUSP22 dual specificity phosphatase 22 PC 38.68 NA NA 616778
IRF4 interferon regulatory factor 4 PC 19.27 NA Skin/hair/eye pigmentation, variation in, 8 601900
EXOC2 exocyst complex component 2 PC 34.26 NA NA 615329
HUS1B HUS1 checkpoint clamp component B PC 97.37 NA NA 609713
Genes present in the 6p25.3p25.2 duplicated region
BPHL biphenyl hydrolase like PC 69.92 NA NA 616778
LINC01600 long intergenic non-protein coding RNA 1600 ncRNA 99.38 NA NA NA
C6orf201 chromosome 6 open reading frame 201 PC 90.99 NA NA NA
ECI2 enoyl-CoA delta isomerase 2 PC 64.53 NA NA 608024
FAM217A family with sequence similarity 217 member A PC 71.39 NA NA NA
FAM50B family with sequence similarity 50 member B PC 73.35 Imprinted (Paternal) NA 614686
FOXC1 forkhead box C1 PC 9.01 NA Anterior segment dysgenesis 3, multiple subtypes, AD; Axenfeld-Rieger syndrome, type 3, AD 601090
FOXF2 forkhead box F2 PC 29.64 NA NA 603250
FOXQ1 forkhead box Q1 PC 74.58 NA NA 612788
GMDS GDP-mannose 4,6-dehydratase PC 3.84 NA NA 602884
MYLK4 myosin light chain kinase family member 4 PC 57.67 NA NA NA
NQO2 N-ribosyldihydronicotinamide: quinone reductase 2 PC 69.72 NA Breast cancer susceptibility 160998
PRPF4B pre-mRNA processing factor 4B PC 3.38 NA NA 602338
PSMG4 proteasome assembly chaperone 4 PC 70.84 NA NA 617550
PXDC1 PX domain containing 1 PC 64.96 Imprinted (Paternal) NA NA
RIPK1 receptor interacting serine/threonine kinase 1 PC 52.24 NA Autoinflammation with episodic fever and lymphadenopathy, AD; 603453
SERPINB1 serpin family B member 1 PC 35.07 NA Immunodeficiency 57 with autoinflammation, AR 130135
SERPINB6 serpin family B member 6 PC 69 NA NA 173321
SERPINB9 serpin family B member 9 PC 88.04 NA ?Deafness, autosomal recessive 91,AR 601799
SLC22A23 solute carrier family 22-member 23 PC 50.77 NA NA 611697
TUBB2A tubulin beta 2A class IIa PC 20.26 NA NA 615101
TUBB2B tubulin beta 2B class IIb PC 24.97 NA Cortical dysplasia, complex, with other brain malformations 5, AD 612850
WRNIP1 WRN helicase interacting protein 1 PC 36.94 NA Cortical dysplasia, complex, with other brain malformations 7, AD 608196
  1. AD autosomal dominant; AR autosomal recessive; %HI DECIPHER Haploinsufficiency index (High ranks (e.g. 0–10%) indicate a gene is more likely to exhibit haploinsufficiency, low ranks (e.g. 90–100%) indicate a gene is more likely to NOT exhibit haploinsufficiency). PC protein-coding gene. ncRNA non-coding RNA. NA not accessible. OMIM (https://omim.org/): Online Mendelian Inheritance in Man®. ClinGen Haploinsufficiency Score: score of haploinsufficient (deletion) or triplosensitive (duplication) (https://dosage.clinicalgenome.org/)