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  3. TYR
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BRIDGE_SPEED_NEURO_20170705

Gene: TYR

Green List (high evidence)
TYR (tyrosinase)
EnsemblGeneIds (GRCh38): ENSG00000077498
EnsemblGeneIds (GRCh37): ENSG00000077498
OMIM: 606933, Gene2Phenotype
TYR is in 11 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 . Main mutation mechanism : Loss of function
Created: 28 Jul 2017, 10:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 2 Aug 2017, 8:09 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 3:06 p.m.
Created: 31 Jul 2017, 3:06 p.m.

Panel version: 0.181

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Albinism, oculocutaneous, type IA, 203100
  • Waardenburg syndrome/albinism, digenic, 103470
  • Albinism, oculocutaneous, type IB, 606952
  • [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800
  • {Melanoma, cutaneous malignant, susceptibility to, 8}, 601800
  • [Skin/hair/eye pigmentation 3, blue/green eyes], 601800
OMIM
606933
Clinvar variants
Variants in TYR
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for TYR were set to Albinism, oculocutaneous, type IA, 203100; Waardenburg syndrome/albinism, digenic, 103470; Albinism, oculocutaneous, type IB, 606952; [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800; {Melanoma, cutaneous malignant, susceptibility to, 8}, 601800; [Skin/hair/eye pigmentation 3, blue/green eyes], 601800

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

TYR 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)

TYR was created by LouiseD