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Intellectual disability

Gene: FA2H

Green List (high evidence)

FA2H (fatty acid 2-hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000103089
EnsemblGeneIds (GRCh37): ENSG00000103089
OMIM: 611026, Gene2Phenotype
FA2H is in 17 panels

6 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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

Rebecca Foulger (Genomics England curator)

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

Alistair Pagnamenta (University of Oxford)

Green List (high evidence)

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

Ellen McDonagh (Genomics England Curator)

I don't know

Mutations in this gene have been reported to result in a form of spastic paraplegia associated with ID and seizures. Not in Gene2Phenotype.
Created: 27 Oct 2017, 2:46 p.m.

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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 : NA
Created: 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 Trust
Created: 19 Jul 2017, 12:24 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • omim.org
  • Personal communication with NIHRBRRD BRIDGE SPEED

Louise Daugherty (Genomics England Curator)

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.

History Filter Activity

10 Dec 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

10 Dec 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: FA2H were set to 24833714; 20104589

10 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: fa2h has been classified as Green List (High Evidence).

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

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.

29 Nov 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene FA2H was set to ['24833714', '20104589']

20 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

FA2H was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

19 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

FA2H was created by BRIDGE