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BRIDGE_SPEED_NEURO_v2.0_20160416

Gene: PLEC

Red List (low evidence)

PLEC (plectin)
EnsemblGeneIds (GRCh38): ENSG00000178209
EnsemblGeneIds (GRCh37): ENSG00000178209
OMIM: 601282, Gene2Phenotype
PLEC is in 12 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; neuro_20160418_strict; Loss of function
Created: 7 Feb 2017, 4:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy with epidermolysis bullosa simplex, 226670; Epidermolysis bullosa simplex, Ogna type, 131950; Epidermolysis bullosa simplex with pyloric atresia, 612138; Muscular dystrophy, limb-girdle, type 2Q, 613723

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE
Phenotypes
  • Muscular dystrophy with epidermolysis bullosa simplex, 226670
  • Epidermolysis bullosa simplex, Ogna type, 131950
  • Epidermolysis bullosa simplex with pyloric atresia, 612138
  • Muscular dystrophy, limb-girdle, type 2Q, 613723
OMIM
601282
Clinvar variants
Variants in PLEC
Penetrance
Complete
Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PLEC was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PLEC was added to BRIDGE_SPEED_NEURO_v2.0_20160416panel. Sources: BRIDGE