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Table 1 List of genes for the duplicated region for patient 2

From: Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern

Symbol

Gene name

HI(D)1

HI(I)2

TS(I)3

Imprinting4

POTEB

POTE ankyrin domain family, member B

-

-

-

-

OR4M2

Olfactory receptor, family 4, subfamily M, member 2

93.7

-

-

-

OR4N4

Olfactory receptor, family 4, subfamily N, member 4

78.3

-

-

-

GOLGA6L1

Golgin A6 family-like 1

-

-

-

-

TUBGCP5

Tubulin-gamma complex-associated protein 5

-

-

-

-

CYFIP1

Cytoplasmic FMRP interacting protein 1

53.3

-

-

-

NIPA2

Not imprinted in Prader-Willi syndrome/Angelman syndrome 2

52.9

0

0

-

NIPA1*

Not imprinted in Prader-Willi syndrome/Angelman syndrome 1

25.3

0

0

-

GOLGA6L2

Golgin A6 family-like 2

-

-

-

-

MKRN3

Makorin ring finger protein 3

98.7

0

0

P

MAGEL2

MAGE-like 2

-

-

-

P

NDN*

Necdin, melanoma antigen (MAGE) family member

36.2

-

-

P

NPAP1*

Nuclear pore associated protein 1

93.6

-

-

-

SNRPN*

Small nuclear ribonucleoprotein polypeptide N

11.3

-

-

P

SNURF

SNRPN upstream reading frame

64.6

-

-

P

UBE3A*^

Ubiquitin protein ligase E3A

23.2

3

0

M

ATP10A*

ATPase, class V, type 10A

74.0

0

0

M

GABRB3*

Gamma-aminobutyric acid (GABA) A receptor, beta-3

5.2

0

0

-

GABRA5

Gamma-aminobutyric acid (GABA) A receptor, alpha-5

25.5

-

-

-

GABRG3

Gamma-aminobutyric acid (GABA) A receptor, gamma-3

83.8

-

-

-

OCA2*

Pink-eye dilution, murine, homolog of (oculocutaneous albinism II)

71.5

0

0

-

HERC2*

HECT domain and RCC1-like domain 2

42.7

-

-

-

  1. Notes: Gene list and names according to Decipher (https://decipher.sanger.ac.uk/). The list for Patient #1 is from MKRN3 to HERC2.
  2. *OMIM morbid genes.
  3. ^Associated with developmental disorders according to the Developmental Disorders Genotype-Phenotype Database (DDG2P).
  4. 1HI(D) Haploinsufficiency scores from Decipher: values from 0-100%. Low values (0-10%) indicate more likely to exhibit Haploinsufficiency.
  5. 2HI(I) ISCA Haploinsufficiency Score (0 = no evidence available, 1 = Little evidence, 2 = Some evidence, 3 = Sufficient evidence for dosage pathogenicity).
  6. 3TS(I) ISCA Triplosensitivity Score (0 = no evidence available, 1 = Little evidence, 2 = Some evidence, 3 = Sufficient evidence for dosage pathogenicity) (http://www.ncbi.nlm.nih.gov/projects/dbvar/ISCA/).
  7. 4For last column: M = expressed from maternal allele, P = expressed from paternal allele.
  8. Abbreviations: FMRP; Fragile X mental retardation protein; HECT: Homologous to the E6-AP carboxyl terminus; SNRPN; small nuclear ribonucleoprotein polypeptide N.