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  2. BRIDGE_SPEED_NEURO_20170705
  3. GNPTAB
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BRIDGE_SPEED_NEURO_20170705

Gene: GNPTAB

Green List (high evidence)
GNPTAB (N-acetylglucosamine-1-phosphate transferase alpha and beta subunits)
EnsemblGeneIds (GRCh38): ENSG00000111670
EnsemblGeneIds (GRCh37): ENSG00000111670
OMIM: 607840, Gene2Phenotype
GNPTAB is in 15 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
Created: 28 Jul 2017, 9:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 2 Aug 2017, 3:46 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 12:02 p.m.
Created: 31 Jul 2017, 12:02 p.m.

Panel version: 0.73

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for GNPTAB were set to Mucolipidosis III alpha/beta, 252600; Mucolipidosis II alpha/beta, 252500

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

GNPTAB 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)

GNPTAB was created by LouiseD