Intellectual disability - microarray and sequencing
Gene: SLC2A1Comment on phenotypes: reformatted to remove format issueCreated: 12 Jan 2018, 11:20 a.m.
Comment on phenotypes: reformatted to remove format issueCreated: 12 Jan 2018, 11:20 a.m.
Comment on phenotypes: reformatted to remove format issueCreated: 12 Jan 2018, 11:20 a.m.
Comment on phenotypes: reformatted to remove format issueCreated: 12 Jan 2018, 11:20 a.m.
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_omim_20150205_epilepsies;in_movement_disorder_list;in_UKGTN_v12 . Main mutation mechanism : Loss of functionCreated: 27 Jul 2017, 8:26 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; find_uk10k; gilissen_2014_known; omim_20150205_epilepsies; manju_list; UKGTN_v12; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; gonzalez_mantilla_2016; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation TrustCreated: 19 Jul 2017, 1:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Comment on mode of inheritance: Intellectual disability reported as a phenotypic feature in GLUT1 deficiency syndrome 1, infantile onset, severe 606777 which can be either mono or biallelicCreated: 12 Jan 2017, 4:30 p.m.
Source Victorian Clinical Genetics Services was added to SLC2A1.
12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.
Phenotypes for SLC2A1 were set to GLUT1 deficiency syndrome 1, 606777; GLUT1 deficiency syndrome 2, 612126; {Epilepsy, idiopathic generalized, suscpetibility to, 12}, 614847; Dystonia 9, 601042; GLUT1 DEFICIENCY SYNDROME TYPE 1 (GLUT1DS1)
Phenotypes for SLC2A1 were set to GLUT1 deficiency syndrome 1, 606777; GLUT1 deficiency syndrome 2, 612126; {Epilepsy, idiopathic generalized, suscpetibility to, 12}, 614847; Dystonia 9, 601042; GLUT1 DEFICIENCY SYNDROME TYPE 1 (GLUT1DS1)
Phenotypes for SLC2A1 were set to GLUT1 deficiency syndrome 1, 606777; GLUT1 deficiency syndrome 2, 612126; {Epilepsy, idiopathic generalized, suscpetibility to, 12}, 614847; Dystonia 9, 601042; GLUT1 DEFICIENCY SYNDROME TYPE 1 (GLUT1DS1)
Phenotypes for SLC2A1 were set to GLUT1 deficiency syndrome 1, 606777; GLUT1 deficiency syndrome 2, 612126; {Epilepsy, idiopathic generalized, suscpetibility to, 12}, 614847; Dystonia 9, 601042; GLUT1 DEFICIENCY SYNDROME TYPE 1 (GLUT1DS1)
Mode of inheritance for SLC2A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for SLC2A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
The Gel status was updated for this whole panel
The Gel status was updated for this whole panel
SLC2A1 was added to Intellectual disabilitypanel. Source: Expert Review Green Model of inheritance for gene SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
SLC2A1 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen