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Intellectual disability

Gene: FOXN1

Amber List (moderate evidence)

FOXN1 (forkhead box N1)
EnsemblGeneIds (GRCh38): ENSG00000109101
EnsemblGeneIds (GRCh37): ENSG00000109101
OMIM: 600838, Gene2Phenotype
FOXN1 is in 5 panels

3 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

ID is not part of the phenotype.
Created: 3 Feb 2020, 4:03 a.m. | Last Modified: 3 Feb 2020, 4:03 a.m.
Panel Version: 3.0

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 . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 5:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Louise Daugherty (Genomics England Curator)

Comment on list classification: Evidences Key to SPEED NEURO gene list: in_ddg2p_20141118 : In DDG2P list date 20141118. PMID = 25529582. in_ddg2p_20141118_conf : In DDG2P list date 20141118 (subset category = confirmed).PMID = 25529582. in_ddg2p_201507 : In DDG2P list date 201507. PMID = 25529582. in_ddg2p_201507_conf : In DDG2P list date 201507 (subset category = confirmed). PMID = 25529582. in_ddg2p_2_4_2017 : In DDG2P list date 2_4_2017. PMID = 25529582. in_ddg2p_2_4_2017_conf : In DDG2P list date 2_4_2017 (subset category = confirmed). PMID = 25529582. in_gilissen_2014_known : In list of known intellectual disability associated genes published by Gilissen et al., 2014. PMID = 24896178. in_omim_20150205_epilepsies : In list of genes associated with "epilepsy" (and related terms) accessed 20150205. https://omim.org/. in_omim_20150205_movement : In list of genes associated with "movement disorder" (and related terms) accessed 20150205. https://omim.org/. in_omim_20150205_microcephaly : In list of genes associated with "microcephaly" (and related terms) accessed 20150205. https://omim.org/. in_movement_disorder_list : In a list of movement disorder associated genes. Personal communication. in_UKGTN_v12 : NHS Directory of Genetic Disorders/Genes for Diagnostic Testing Version 12. https://ukgtn.nhs.uk. in_manual : Genes of interest from literature searches and personal communications.
Created: 28 Jul 2017, 11:56 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705
OMIM
600838
Clinvar variants
Variants in FOXN1
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.

28 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).

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

FOXN1 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

FOXN1 was created by BRIDGE