GLE1

GLE1, RNA export mediator
OMIM: 603371, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Red GLE1 in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.95	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 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	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 Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	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 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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 1.506	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 Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) 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 Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	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