BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: SPTLC2

SPTLC2 (serine palmitoyltransferase long chain base subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000100596
EnsemblGeneIds (GRCh37): ENSG00000100596
OMIM: 605713, Gene2Phenotype
SPTLC2 is in 13 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; find_uk10k; GEL_ID_red_20160217; neuro_20160418_strict; All missense/in frame
Created: 7 Feb 2017, 4:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Neuropathy, hereditary sensory and autonomic, type IC, 613640

Mode of pathogenicity
Other - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2017, 4:57 p.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

BRIDGE

Phenotypes

Neuropathy, hereditary sensory and autonomic, type IC, 613640

OMIM

605713

Clinvar variants

Variants in SPTLC2

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SPTLC2 was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source