Table A.

Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency: Genes and Databases

GeneChromosome LocusProteinLocus-Specific DatabasesHGMDClinVar
ANOS1 Xp22​.31 Anosmin-1 KAL1 @ LOVD ANOS1 ANOS1
AXL 19q13​.2 Tyrosine-protein kinase receptor UFO AXL AXL
CCDC141 2q31​.2 Coiled-coil domain-containing protein 141 CCDC141 CCDC141
CHD7 8q12​.2 Chromodomain-helicase-DNA-binding protein 7 CHD7 database CHD7 CHD7
DUSP6 12q21​.33 Dual specificity protein phosphatase 6 DUSP6 DUSP6
FEZF1 7q31​.32 Fez family zinc finger protein 1 FEZF1 FEZF1
FGF8 10q24​.32 Fibroblast growth factor 8 FGF8 database FGF8 FGF8
FGF17 8p21​.3 Fibroblast growth factor 17 FGF17 FGF17
FGFR1 8p11​.23 Fibroblast growth factor receptor 1 FGFR1 database FGFR1 FGFR1
FLRT3 20p12​.1 Leucine-rich repeat transmembrane protein FLRT3 FLRT3 FLRT3
GNRH1 8p21​.2 Progonadoliberin-1 GNRH1 GNRH1
GNRHR 4q13​.2 Gonadotropin-releasing hormone receptor GNRHR database GNRHR GNRHR
HS6ST1 2q14​.3 Heparan-sulfate 6-O-sulfotransferase 1 HS6ST1 HS6ST1
IL17RD 3p14​.3 Interleukin-17 receptor D IL17RD IL17RD
KISS1 1q32​.1 Metastasis-suppressor KiSS-1 KISS1 KISS1
KISS1R 19p13​.3 KiSS-1 receptor KISS1R database KISS1R KISS1R
NSMF 9q34​.3 NMDA receptor synaptonuclear signaling and neuronal migration factor NSMF database NSMF NSMF
POLR3B 12q23​.3 DNA-directed RNA polymerase III subunit RPC2 POLR3B @ LOVD POLR3B POLR3B
PROK2 3p13 Prokineticin-2 PROK2 database PROK2 PROK2
PROKR2 20p12​.3 Prokineticin receptor 2 PROKR2 database PROKR2 PROKR2
SEMA3A 7q21​.11 Semaphorin-3A SEMA3A SEMA3A
SEMA3E 7q21​.11 Semaphorin-3E SEMA3E database SEMA3E SEMA3E
SOX10 22q13​.1 Transcription factor SOX-10 SOX10 homepage - Leiden Muscular Dystrophy pages SOX10 SOX10
SPRY4 5q31​.3 Protein sprouty homolog 4 SPRY4 SPRY4
SRA1 5q31​.3 Steroid receptor RNA activator 1 SRA1 SRA1
TAC3 12q13​.3 Tachykinin-3 TAC3 TAC3
TACR3 4q24 Neuromedin-K receptor TACR3 database TACR3 TACR3
WDR11 10q26​.12 WD repeat-containing protein 11 WDR11 database WDR11 WDR11

Data are compiled from the following standard references: gene from HGNC; chromosome locus from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click here.

From: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency

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