GLE1

GLE1, RNA export mediator
OMIM: 603371, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Red GLE1 in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.64	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Lethal congenital contracture syndrome 1, 253310 LCCS1 MULTIPLE CONTRACTURE SYNDROME, FINNISH TYPE Arthrogryposis, lethal, with anterior horn cell disease, 611890
Green GLE1 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 5.22 Latest signed off version: v5.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Lethal congenital contracture syndrome 1, 253310 Arthrogryposis, lethal, with anterior horn cell disease, 611890 lethal arthrogryposis with anterior horn cell disease
Green GLE1 in Fetal anomalies Version 3.157 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE
Green GLE1 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE 611890
Red GLE1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Phenotypes Lethal congenital contracture syndrome 1, 253310 Congenital arthrogryposis with anterior horn cell disease, 611890 Micrognathia, pulmonary hypoplasia, loss of anterior horn cells, intrauterine death
Red GLE1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.536 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Lethal congenital contracture syndrome 1, 253310 Arthrogryposis, lethal, with anterior horn cell disease, 611890
Red GLE1 in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS NHS GMS London North GLH Phenotypes Lethal congenital contracture syndrome 1, 253310 Congenital arthrogryposis with anterior horn cell disease, 611890 Micrognathia, pulmonary hypoplasia, loss of anterior horn cells, intrauterine death
Green GLE1 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Congenital arthrogryposis with anterior horn cell disease, 611890 Lethal congenital contracture syndrome 1, 253310