Entry Search - 615000 615031

Search: '615000 615031 (Search in: MIM number)'

Results: 2 entries.

* 615000. TECTONIN BETA-PROPELLER REPEAT-CONTAINING PROTEIN 2; TECPR2
Cytogenetic location: 14q32.31, Genomic coordinates (GRCh38): 14:102,362,941-102,502,477
Matching terms: 615000
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
14q32.31	Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay	615031	AR	3

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# 615031. NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY; HSAN9
Cytogenetic location: 14q32.31
Matching terms: 615031
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
14q32.31	Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay	615031	AR	3	TECPR2	615000

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Hereditary sensory and autonomic neuropathy - PS162400 - 16 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p13.2	Neuropathy, hereditary sensory and autonomic, type V	AR	3	608654	NGF	162030
1q23.1	Insensitivity to pain, congenital, with anhidrosis	AR	3	256800	NTRK1	191315
2q37.3	Neuropathy, hereditary sensory, type IIC	AR	3	614213	KIF1A	601255
3p24-p22	Neuropathy, hereditary sensory, type IB	AD	2	608088	HSN1B	608088
3p22.2	Neuropathy, hereditary sensory and autonomic, type VII	AD	3	615548	SCN11A	604385
5p15.1	Neuropathy, hereditary sensory and autonomic, type IIB	AR	3	613115	RETREG1	613114
6p12.1	Neuropathy, hereditary sensory and autonomic, type VI	AR	3	614653	DST	113810
9q22.31	Neuropathy, hereditary sensory and autonomic, type IA	AD	3	162400	SPTLC1	605712
9q31.3	Dysautonomia, familial	AR	3	223900	ELP1	603722
9q34.12	Neuropathy, hereditary sensory and autonomic, type VIII	AR	3	616488	PRDM12	616458
11q13.1	Neuropathy, hereditary sensory, type IF	AD	3	615632	ATL3	609369
12p13.33	Neuropathy, hereditary sensory and autonomic, type II	AR	3	201300	WNK1	605232
14q22.1	Neuropathy, hereditary sensory, type ID	AD	3	613708	ATL1	606439
14q24.3	Neuropathy, hereditary sensory and autonomic, type IC	AD	3	613640	SPTLC2	605713
14q32.31	Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay	AR	3	615031	TECPR2	615000
19p13.2	Neuropathy, hereditary sensory, type IE	AD	3	614116	DNMT1	126375

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews MedlinePlus Genetics GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype OMIA

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ICD+
ORPHA: 320385 DO: 0110801

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Search: 615000 615031 (Search in: MIM number)

Results: 2 entries.

* 615000. TECTONIN BETA-PROPELLER REPEAT-CONTAINING PROTEIN 2; TECPR2
Cytogenetic location: 14q32.31, Genomic coordinates (GRCh38): 14:102,362,941-102,502,477
Matching terms: 615000

# 615031. NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY; HSAN9
Cytogenetic location: 14q32.31
Matching terms: 615031

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Printed: March 5, 2025