Intellectual disability - microarray and sequencing
Gene: FA2H
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.
Panel Version: 3.1510
Although FA2H associated with Spastic paraplegia 35, autosomal recessive 612319 in OMIM and as confirmed Gen2Phen gene. This the phenotype is unlikely to be relevant for the intellectual disability panel, as congnitive decline one feature of this progressive neurodegenerative condition.
The "for-review" tag has been added to this gene as the phenotype is not relevant for this panel and so this gene should be rated RED at the next major review.Created: 22 Oct 2020, 5:26 p.m. | Last Modified: 22 Oct 2020, 5:26 p.m.
Panel Version: 3.484
This is a progressive neurodegenerative condition, albeit presenting in childhood, and we have rated this gene Red on our ID panel, though it is Green on several other panels.Created: 2 Feb 2020, 6:28 a.m. | Last Modified: 2 Feb 2020, 6:28 a.m.
Panel Version: 3.0
Comment on list classification: Upgraded from Amber to Green based on Green review by Alistair Pagnamenta: PMID:31135052 analysed a cohort of 19 cases with biallelic FA2H variants. Phenotype includes spastic paraplegia associated with ID: mild cognitive deficits were noted from childhood in 93% of cases, and were considered progressive in all but two cases.Created: 10 Dec 2019, 11:12 a.m. | Last Modified: 10 Dec 2019, 11:12 a.m.
Panel Version: 2.1136
In recent case series reported by Rattay et al (PMID: 31135052), lower limb spastic tetraparesis was accompanied by progressive cognitive deficits >90% of patients. Suggest gene should be upgraded to green in this panel.Created: 3 Dec 2019, 4:09 p.m. | Last Modified: 3 Dec 2019, 4:09 p.m.
Panel Version: 2.1135
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HSP; ID; Seizures
Publications
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_omim_20150205_movement;in_movement_disorder_list . Main mutation mechanism : NACreated: 27 Jul 2017, 5:41 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : omim_20150205_movement; manju_list; Nijmegen_ID_candidates; neuro_20160418_strict; NA. 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, 12:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to assess inclusion and pertinence to this panel.Created: 20 Jul 2017, 11:48 a.m.
Tag for-review was removed from gene: FA2H.
Source Expert Review Red was added to FA2H. Rating Changed from Green List (high evidence) to Red List (low evidence)
Tag for-review tag was added to gene: FA2H.
Phenotypes for gene: FA2H were changed from Spastic paraplegia 35, autosomal recessive, 612319 to Spastic paraplegia 35, autosomal recessive, 612319; spastic paraplegia with ID; cognitive defects; Seizures
Publications for gene: FA2H were set to 24833714; 20104589
Gene: fa2h has been classified as Green List (High Evidence).
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.
Publications for gene FA2H was set to ['24833714', '20104589']
This gene has been classified as Amber List (Moderate Evidence).
FA2H was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene
FA2H was created by BRIDGE