1. Panels
  2. BRIDGE_SPEED_NEURO_20170705
  3. GNAS
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

BRIDGE_SPEED_NEURO_20170705

Gene: GNAS

Green List (high evidence)
GNAS (GNAS complex locus)
EnsemblGeneIds (GRCh38): ENSG00000087460
EnsemblGeneIds (GRCh37): ENSG00000087460
OMIM: 139320, Gene2Phenotype
GNAS is in 19 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 : Activating; Loss of function
Created: 28 Jul 2017, 9:20 a.m.

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

Publications

Mode of pathogenicity

Created: 2 Aug 2017, 3:45 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 12:01 p.m.
Created: 31 Jul 2017, 12:01 p.m.

Panel version: 0.72

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Pseudohypoparathyroidism Ia, 103580
  • McCune-Albright syndrome, somatic, mosaic, 174800
  • Pseudohypoparathyroidism Ic, 612462
  • Osseous heteroplasia, progressive, 166350
  • Pseudohypoparathyroidism Ib, 603233
  • Acromegaly, somatic, 102200
  • Pseudopseudohypoparathyroidism, 612463
  • ACTH-independent macronodular adrenal hyperplasia, 219080
OMIM
139320
Clinvar variants
Variants in GNAS
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for GNAS were set to Pseudohypoparathyroidism Ia, 103580; McCune-Albright syndrome, somatic, mosaic, 174800; Pseudohypoparathyroidism Ic, 612462; Osseous heteroplasia, progressive, 166350; Pseudohypoparathyroidism Ib, 603233; Acromegaly, somatic, 102200; Pseudopseudohypoparathyroidism, 612463; ACTH-independent macronodular adrenal hyperplasia, 219080

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

GNAS 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)

GNAS was created by LouiseD