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Intellectual disability

Gene: FTL

Amber List (moderate evidence)

FTL (ferritin light chain)
EnsemblGeneIds (GRCh38): ENSG00000087086
EnsemblGeneIds (GRCh37): ENSG00000087086
OMIM: 134790, Gene2Phenotype
FTL is in 14 panels

6 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

ID is not part of the phenotype of these conditions.
Created: 3 Feb 2020, 4:47 a.m. | Last Modified: 3 Feb 2020, 4:47 a.m.
Panel Version: 3.0

Phenotypes
Neurodegeneration with brain iron accumulation 3, MIM#606159; Hyperferritinemia-cataract syndrome, MIM#600886; L-ferritin deficiency, dominant and recessive, MIM#615604

Ellen McDonagh (Genomics England Curator)

I don't know

Known ID gene on list due to being on the DDG2P list PMID 26350204 (Grozeva et al, 2015). It is a confirmed DD gene for HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME and is green on the Cataracts panel (Version 1.17). L-ferritin deficiency can include mild neurocognitive impairment. Neurodegeneration with brain iron accumulation 3 inlcudes neurologic decline. This is a Green gene on the Parkinson Disease and Complex Parkinsonism panel (version 1.19), Structural basal ganglia disorders panel (version 1.2), Early onset dystonia panel (version 1.39). Unsure whether it is suitable to be on the ID panel.
Created: 13 Dec 2017, 9:46 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Neurodegeneration with brain iron accumulation 3 606159; Hyperferritinemia-cataract syndrome; L-ferritin deficiency, dominant and recessive

Caroline Wright (Sanger)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME (HHCS)

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_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_movement_disorder_list;in_UKGTN_v12 . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 6 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; manju_list; UKGTN_v12; GEL_ID_red_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 Trust
Created: 19 Jul 2017, 12:29 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

  • 25529582
  • Personal communication with NIHRBRRD BRIDGE SPEED
  • Version 12 ukgtn.nhs.uk

Lu Raymond (university of cambridge )

I don't know

Richard Scott (Genomics England Curator)

Comment on list classification: Not an ID gene
Created: 7 Feb 2016, 8:41 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Neurodegeneration with brain iron accumulation 3 606159
  • Hyperferritinemia-cataract syndrome
  • L-ferritin deficiency, dominant and recessive
OMIM
134790
Clinvar variants
Variants in FTL
Penetrance
Complete
Panels with this gene

History Filter Activity

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.

5 Jan 2018, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

5 Jan 2018, Gel status: 1

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

7 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

7 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FTL was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FTL was added to Intellectual disabilitypanel. Sources: Expert Review Amber