Download REFERENCE SEQUENCE TRANSCRIPTS AND GENES BY

ROYAL DEVON & EXETER NHS FOUNDATION TRUST
Department of Molecular Genetics
REFERENCE SEQUENCE TRANSCRIPTS AND GENES BY PHENOTYPES FOR V6.2
Alagille Syndrome
(ALAGILLE)
RefSeq
JAG1
NOTCH2
NM_000214.2
NM_024408.3
Chondrodysplasia punctata
(CDP)
RefSeq
AGPS
ARSE
EBP
GNPAT
PEX7
NM_003659.3
NM_000047.2
NM_006579.2
NM_014236.3
NM_000288.3
Combined Pituitary Hormone Deficiency
(CPHD)
RefSeq
HESX1
POU1F1
PROP1
LHX3
LHX4
NM_003865.2
NM_000306.2
NM_006261.4
NM_014564.3
NM_033343.3
Congenital Generalised Lipodystrophy
(CGL)
RefSeq
AGPAT2
BSCL2
CAV1
PPARG
PTRF
NM_006412.3
NM_032667.6
NM_001753.4
NM_015869.4
NM_012232.5
Congenital Hypothyroidism
(CH)
RefSeq
FOXE1
NKX2-1
PAX8
TSHR
TPO
TG
DUOX2
THRA
NM_004473.3
NM_001079668.2
NM_003466.3
NM_000369.2
NM_000547.5
NM_003235.4
NM_014080.4
NM_199334.3
Q-Pulse Reference: MG/SOP/NGS014
Revision No: 3
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ROYAL DEVON & EXETER NHS FOUNDATION TRUST
Department of Molecular Genetics
Endocrine Neoplasia Syndromes
(NEOPLASIA)
RefSeq
AIP
CDKN1B
MEN1
RET
SOS1
NM_003977.2
NM_004064.4
NM_130799.2
NM_020975.4
NM_005633.3
Eye Movement disorders
(EYE)
RefSeq
CHN1
HOXA1
HOXB1
KIF21A
PHOX2A
ROBO3
SALL4
TUBB3
NM_001822.5
NM_005522.4
NM_002144.3
NM_001173464.1
NM_005169.3
NM_022370.3
NM_020436.3
NM_006086.3
Familial Glucocorticoid Deficiency
(FGD)
RefSeq
MC2R
MCM4
MRAP
NNT
STAR
NM_000529.2
NM_005914.3
NM_178817.3
NM_012343.3
NM_000349.2
Familial Hyperparathyroidism
(FIH)
RefSeq
CASR
CDC73
CDKN1A
CDKN1B
CDKN2B
CDKN2C
MEN1
RET
NM_000388.3
NM_024529.4
NM_078467.2
NM_004064.4
NM_004936.3
NM_001262.2
NM_130799.2
NM_020975.4
Familial hypocalciuric hypercalcaemia
(FHH)
RefSeq
AP2S1
GNA11
CASR
NM_004069.3
NM_002067.4
NM_000388.3
Q-Pulse Reference: MG/SOP/NGS014
Revision No: 3
Page 2 of 6
ROYAL DEVON & EXETER NHS FOUNDATION TRUST
Department of Molecular Genetics
Familial Hypoparathyroidism
(HYPO-PTH)
RefSeq
CASR
GCM2
GNA11
PTH
NM_000388.3
NM_004752.3
NM_002067.2
NM_000315.2
Familial Partial Lipodystrophy
(FPL)
RefSeq
LMNA
PLIN1
PPARG
NM_170707.3
NM_002666.4
NM_015869.4
Familial Porencephaly and HANAC
syndrome (POREN)
RefSeq
COL4A1
COL4A2
NM_001845.4
NM_001846.2
Familial Tumoral Calcinosis
(FTC)
RefSeq
FGF23
GALNT3
KL
SAMD9
NM_020638.2
NM_004482.3
NM_004795.3
NM_017654.3
Gastrointestinal atresia
(GASTRO)
RefSeq
CCDC11 – HGNC approved name CFAP53
CHD7
FANCB
FANCC
GLI3
MID1
RFX6
SOX2
TTC7A
NM_145020.3
NM_017780.3
NM_001018113.1
NM_000136.2
NM_000168.5
NM_000381.3
NM_173560.3
NM_003106.3
NM_020458.2
General Arterial Calcification in Infancy
(GACI)
RefSeq
ABCC6
ENPP1
NM_001171.5
NM_006208.2
Q-Pulse Reference: MG/SOP/NGS014
Revision No: 3
Page 3 of 6
ROYAL DEVON & EXETER NHS FOUNDATION TRUST
Department of Molecular Genetics
Holoprosencephaly
(HPE)
RefSeq
GLI2
PTCH1
SHH
SIX3
TGIF1
ZIC2
NM_005270.4
NM_000264.3
NM_000193.2
NM_005413.3
NM_173208.2
NM_007129.3
Hypophosphatemic Rickets
(RICKETS)
RefSeq
DMP1
ENPP1
FGF23
PHEX
SLC34A3
NM_004407.3
NM_006208.2
NM_020638.2
NM_000444.4
NM_080877.2
Phaeochromocytoma/Paraganglioma
(PHAEO)
RefSeq
FH
MAX
RET
SDHA
SDHAF2
SDHB
SDHC
SDHD
TMEM127
VHL
NM_000143.3
NM_002382.4
NM_020975.4
NM_004168.2
NM_017841.2
NM_003000.2
NM_003001.3
NM_003002.3
NM_017849.3
NM_000551.3
Pontocerebellar Hypoplasia
(PCH)
RefSeq
AMPD2
CASK
CHMP1A
CLP1
EXOSC3
RARS2
SEPSECS
TSEN2
TSEN34
TSEN54
VPS53
VRK1
NM_004037.6
NM_003688.3
NM_002768.3
NM_006831.2
NM_016042.3
NM_020320.3
NM_016955.3
NM_025265.3
NM_024075.3
NM_207346.2
NM_001128159.2
NM_003384.2
Q-Pulse Reference: MG/SOP/NGS014
Revision No: 3
Page 4 of 6
ROYAL DEVON & EXETER NHS FOUNDATION TRUST
Department of Molecular Genetics
Primary pigmented nodular
adrenocortical disease
(PPNAD)
RefSeq
PDE11A
PDE8B
PRKAR1A
NM_016953.3
NM_003719.3
NM_002734.3
Pseudohypoaldosteronism
(PHA)
RefSeq
CUL3
KLHL3
WNK4
WNK1
NM_003590.4
NM_017415.2
NM_032387.4
NM_018979.3
Spondylocostal Dysostosis
(SCD)
RefSeq
DLL3
HES7
LFNG
MESP2
TBX6
RIPPLY2
NM_016941.3
NM_032580.2
NM_001040167.1
NM_001039958.1
NM_004608.3
NM_001009994.2
Visceral heterotaxy
(HTX)
RefSeq
CFC1
ZIC3
NM_032545.3
NM_003413.3
Q-Pulse Reference: MG/SOP/NGS014
Revision No: 3
Page 5 of 6
ROYAL DEVON & EXETER NHS FOUNDATION TRUST
Department of Molecular Genetics
Stand-alone
(single gene)
tests
Disorder
RefSeq
ALDH7A1
BANF1
EFTUD2
FGD1
FOXF1
Pyridoxine-dependent Epilepsy
Progeria
Mandibulofacial Dysostosis with Microcephaly
Aarskog-Scott Syndrome
Alveolar Capillary Dysplasia with Misalignment of
Pulmonary Veins (ACD/MPV)
Thyrotoxic hypokalaemic periodic paralysis
Feingold Syndrome
Aortic Valve Disease
Hajdu-Cheney syndrome
CADASIL
CHILD syndrome
Acrodysostosis
SHORT Syndrome
Multisystem disorder with lipodystrophy
Acrodysostosis (exons 9 and 11 only)
Multiple Endocrine Neoplasia type 2B (exons 15 and
16 only)
Fanconi-Bickel syndrome
Congenital abnormalities of the kidney and urinary
tract (CAKUT) and VACTERL
Werner syndrome
Restrictive dermopathy/Mandibuloacral
dysplasia/Hutchinson-Gilford Progeria Syndrome
NM_001182.4
NM_001143985.1
NM_004247.3
NM_004463.2
NM_001451.2
KCNJ18
MYCN
NOTCH1
NOTCH2
NOTCH3
NSDHL
PDE4D
PIK3R1
POLD1
PRKAR1A
RET
SLC2A2
TRAP1
WRN
ZMPSTE24
Q-Pulse Reference: MG/SOP/NGS014
Revision No: 3
Page 6 of 6
NM_001194958.1
NM_005378.4
NM_017617.3
NM_024408.3
NM_000435.2
NM_015922.2
NM_001104631.1
NM_181523.2
NM_002691.3
NM_002734.3
NM_020975.4
NM_000340.1
NM_016292.2
NM_000553.4
NM_005857.4