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  2. BRIDGE_SPEED_NEURO_20170705
  3. MYH9
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BRIDGE_SPEED_NEURO_20170705

Gene: MYH9

Green List (high evidence)
MYH9 (myosin heavy chain 9)
EnsemblGeneIds (GRCh38): ENSG00000100345
EnsemblGeneIds (GRCh37): ENSG00000100345
OMIM: 160775, Gene2Phenotype
MYH9 is in 14 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 . Main mutation mechanism : Loss of function; Uncertain
Created: 28 Jul 2017, 9:51 a.m.

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

Publications

Created: 2 Aug 2017, 5:12 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 1:07 p.m.
Created: 31 Jul 2017, 1:07 p.m.

Panel version: 0.109

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • May-Hegglin anomaly, 155100
  • Fechtner syndrome, 153640
  • Sebastian syndrome, 605249
  • Deafness, autosomal dominant 17, 603622
  • Epstein syndrome, 153650
  • Macrothrombocytopenia and progressive sensorineural deafness, 600208
OMIM
160775
Clinvar variants
Variants in MYH9
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MYH9 were set to May-Hegglin anomaly, 155100; Fechtner syndrome, 153640; Sebastian syndrome, 605249; Deafness, autosomal dominant 17, 603622; Epstein syndrome, 153650; Macrothrombocytopenia and progressive sensorineural deafness, 600208

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

MYH9 was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

MYH9 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green