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  3. RET
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BRIDGE_SPEED_NEURO_20170705

Gene: RET

Green List (high evidence)
RET (ret proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000165731
EnsemblGeneIds (GRCh37): ENSG00000165731
OMIM: 164761, Gene2Phenotype
RET is in 30 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_UKGTN_v12 . Main mutation mechanism : Loss of function; Activating
Created: 28 Jul 2017, 10:40 a.m.

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

Publications

Created: 2 Aug 2017, 6:37 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: orrected format issue
Created: 31 Jul 2017, 2:11 p.m.
Created: 31 Jul 2017, 2:11 p.m.

Panel version: 0.141

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Green
Phenotypes
  • Multiple endocrine neoplasia IIA, 171400
  • Medullary thyroid carcinoma, 155240
  • Multiple endocrine neoplasia IIB, 162300
  • Central hypoventilation syndrome, congenital, 209880
  • Pheochromocytoma, 171300
  • Renal agenesis, 191830
  • {Hirschsprung disease, susceptibility to, 1}, 142623
OMIM
164761
Clinvar variants
Variants in RET
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for RET were set to Multiple endocrine neoplasia IIA, 171400; Medullary thyroid carcinoma, 155240; Multiple endocrine neoplasia IIB, 162300; Central hypoventilation syndrome, congenital, 209880; Pheochromocytoma, 171300; Renal agenesis, 191830; {Hirschsprung disease, susceptibility to, 1}, 142623

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

RET 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)

RET was created by LouiseD