Gene table



Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols

FA2H
Fatty acid 2-hydroxylase



16q21-q23.1
* Spastic paraplegia 35, autosomal recessive - SPG35 (15.44)
* Dysmyelinating leukodystrophy - FAHN (15.44)

FAM111B
Family with sequence similarity 111 member B



11q12.1
* Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis - POIKTMP (16.64)

FARS2
Phenylalanine-tRNA synthetase 2(M)



6p25.1
* Spastic paraplegia 77, autosomal recessive - SPG77 (15.70)

FASTKD2
Fast Kinase Domains 2



2q33.3
* Combined oxidative phosphorylation deficiency 44 - COXPD44 (16.67)

FAT2
Fat tumor suppressor, Drosophila, Homologh of, 2



5q33.1
* Spinocerebellar ataxia 45 - SCA45 (13.42)

FBLN5
Fibulin 5 (extra-cellular matrix)



14q32.12
* Charcot-Marie-Tooth neuropathy, with fibulin defect - (14.12)

FBXL4
F-box and leucine-rich repeat protein 4



6q16.1-q16.2
* Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) - MTDPS13 (16.57)

FBXO38
F-box protein 38



5q32
* Distal Spinal Muscular Atrophy with Calf Predominance - HMN2D (12.29)

FDX2
Ferredoxin(M)



19p13.2
* Mitochondrial myopathy, episodic with or withour atrophy and reversible leukoencephalopathy - MEOAL (16.80)

FGD4
Actin-filament binding protein Frabin



12p11.21
* Charcot-Marie-Tooth neuropathy Type 4H - CMT4H (14.38)

FGF14
Fibroblast growth factor 14



13q34
* Spinocerebellar ataxia 27A - SCA27 (13.24, 13.25)
* Spinocerebellar ataxia 27B, late onset - SCA27 (13.24, 13.25)

FHL1
Four and a half LIM domain 1



Xq26.3
* Scapuloperoneal myopathy, X-linked dominant - SPM (1.7, 5.31, 5.32, 5.33)
* Emery-dreifuss muscular dystrophy 6 - EDMD6 (1.7, 5.31, 5.32, 5.33)
* X-linked myopathy with postural muscle atrophy - XMPMA (1.7, 5.31, 5.32, 5.33)
* Myopathy, reducing body, X-linked, childhood-onset - (1.7, 5.31, 5.32, 5.33)
* Rigid spine syndrome related to FHL1 - RSS (1.7, 5.31, 5.32, 5.33)
* Myopathy, reducing body, X-linked, severe early-onset - (1.7, 5.31, 5.32, 5.33)
* Rigid spine syndrome - RSMD1 (1.7, 5.31, 5.32, 5.33)

FHOD3
Formin homology-2 domain-containing protein 3



18q12.2
* Hypertrophic cardiomyopathy, 28 - CMH28 (10.30)

FIG4
Sac domain-containing inositol phosphatase 3



6q21
* charcot-marie-tooth disease, type 4j - CMT4J (12.62, 14.39)
* Amyotrophic lateral sclerosis 11 - ALS11 (12.62, 14.39)

FILIP1
Filamin A-interacting protein 1



6q14.1
* Myofibrillar myopathy related to FILIP1 - (5.17)

FKRP
Fukutin-related protein



19q13.32
* Walker-Warburg syndrome - WWS (1.50, 2.22, 2.36)
* Muscle-eye-brain disease - MEB (1.50, 2.22, 2.36)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA5 (1.50, 2.22, 2.36)
* Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda - MDDGB5 (1.50, 2.22, 2.36)
* Muscular dystrophy, limb-girdle, type 2I - LGMD2I (1.50, 2.22, 2.36)

FKTN
Fukutin



9q31-q33
* Walker-Warburg syndrome - WWS (2.21, 2.35, 10.62)
* Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t - MDDGB4 (2.21, 2.35, 10.62, 10.62)
* fukuyama congenital muscular dystrophy - FCMD (2.21, 2.35, 10.62, 10.62)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA4 (2.21, 2.35, 10.62, 10.62)
* Cardiomyopathy, dilated, 1X - CMD1X (2.21, 2.35, 10.62, 10.62)
* Limb-Girdle, Muscular dystrophy, type 2M - LGMD2M (2.21, 2.35, 10.62, 10.62)

FLAD1
flavin adenine dinucleotide synthetase, homolog(M)



1q21.3
* Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency - LSMFLAD (9.30)

FLNA
Filamin A, alpha (actin binding protein 280)



Xq28
* Myxomatous valvular dystrophy, X-ninked - XMVD (10.114)
* cardiac valvular dysplasia, x-linked - CVD1 (10.114)

FLNC
Filamin C, gamma (actin-binding protein - 280)



7q32
* Myopathy, myofibrillar, filamin C-related - MFM5 (4.8, 5.6, 10.100, 10.28)
* Myopathy, distal, 4 - MPD4 (4.8, 5.6, 10.100, 10.28)
* Cardiomyopathy, familial hypertrophic, 26 - CMH26 (4.8, 5.6, 10.100, 10.28)

FLVCR1
Feline leukemia subgroup C receptor 1



1q32.3
* Ataxia, posterior column, with retinitis pigmentosa (PCARP) - AXPC1 (14.122)

FUS
Fusion (involved in t(12;16) in malignant liposarcoma)



16q12
* Amyotrophic lateral sclerosis - ALS6 (12.57)

FXN
Frataxin(M)



9q13-q21.1
* Friedreich ataxia - FRDA (13.57)
* Friedreich ataxia with retained reflexes - FARR (13.57)

FXR1
FMR1 autosomal homolog



3q26.33
* Congenital myopathy 9A - CMYP9A (3.35, 3.36)
* Congenital myopathy 9B, proximal with minicore - CMYP9B (3.35, 3.36)