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  3. SHOX
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BRIDGE_SPEED_NEURO_20170705

Gene: SHOX

Green List (high evidence)
SHOX (short stature homeobox)
EnsemblGeneIds (GRCh38): ENSG00000185960
EnsemblGeneIds (GRCh37): ENSG00000185960
OMIM: 312865, Gene2Phenotype
SHOX is in 10 panels

2 reviews

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_gilissen_2014_known;in_UKGTN_v12 . Main mutation mechanism : Loss of function
Created: 28 Jul 2017, 10:44 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

Created: 2 Aug 2017, 7 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 2:40 p.m.
Created: 31 Jul 2017, 2:40 p.m.

Panel version: 0.153

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Green
Phenotypes
  • Short stature, idiopathic familial, 300582
  • Leri-Weill dyschondrosteosis, 127300
  • Langer mesomelic dysplasia, 249700
Tags
Pseudoautosomal region 1
OMIM
312865
Clinvar variants
Variants in SHOX
Penetrance
Complete
Panels with this gene

History Filter Activity

4 Nov 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Pseudoautosomal region 1 tag was added to gene: SHOX.

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SHOX were set to Short stature, idiopathic familial, 300582; Leri-Weill dyschondrosteosis, 127300; Langer mesomelic dysplasia, 249700

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

SHOX was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

SHOX was created by LouiseD