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 (15.40)
* Dysmyelinating leukodystrophy - FAHN (15.40)

FAM111B
Family with sequence similarity 111 member B



11q12.1
* Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis - POIKTMP (16.63)

FARS2
Phenylalanine-tRNA synthetase 2(M)



6p25.1
* Spastic paraplegia 77, autosomal recessive - SPG77 (15.65)

FASTKD2
Fast Kinase Domains 2



2q33.3
* MELAS-like syndrome - (16.66)

FAT2
Fat tumor suppressor, Drosophila, Homologh of, 2



5q33.1
* Spinocerebellar ataxia 45 - SCA45 (13.41)

FBLN5
Fibulin 5 (extra-cellular matrix)



14q32.12
* Charcot-Marie-Tooth neuropathy, with fibulin defect - (14.11)

FBXL4
F-box and leucine-rich repeat protein 4



6q16.1-q16.2
* Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) - MTDPS13 (16.56)

FBXO38
F-box protein 38



5q32
* Distal Spinal Muscular Atrophy with Calf Predominance - HMN2D (12.20)

FDX2
Ferredoxin(M)



19p13.2
* Sensory motor axonal neuropathy and myopathy - (16.78)

FGD4
Actin-filament binding protein Frabin



12p11.21
* Charcot-Marie-Tooth neuropathy Type 4H - CMT4H (14.31)

FGF14
Fibroblast growth factor 14



13q34
* Spinocerebellar ataxia 27 - SCA27 (13.24)

FHL1
Four and a half LIM domain 1



Xq26.3
* Scapuloperoneal myopathy, X-linked dominant - SPM (1.3, 5.25, 5.26, 5.27)
* Emery-dreifuss muscular dystrophy 6 - EDMD6 (1.3, 5.25, 5.26, 5.27)
* X-linked myopathy with postural muscle atrophy - XMPMA (1.3, 5.25, 5.26, 5.27)
* Myopathy, reducing body, X-linked, childhood-onset - (1.3, 5.25, 5.26, 5.27)
* Rigid spine syndrome related to FHL1 - RSS (1.3, 5.25, 5.26, 5.27)
* Myopathy, reducing body, X-linked, severe early-onset - (1.3, 5.25, 5.26, 5.27)
* Rigid spine syndrome - RSMD1 (1.3, 5.25, 5.26, 5.27)

FIG4
Sac domain-containing inositol phosphatase 3



6q21
* charcot-marie-tooth disease, type 4j - CMT4J (12.54, 14.32)
* Amyotrophic lateral sclerosis 11 - ALS11 (12.54, 14.32)

FKRP
Fukutin-related protein



19q13.32
* Walker-Warburg syndrome - WWS (1.33, 2.22, 2.28, 2.33)
* Muscle-eye-brain disease - MEB (1.33, 2.22, 2.28, 2.33)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA5 (1.33, 2.22, 2.28, 2.33)
* Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda - MDDGB5 (1.33, 2.22, 2.28, 2.33)
* Muscular dystrophy, limb-girdle, type 2I - LGMD2I (1.33, 2.22, 2.28, 2.33)

FKTN
Fukutin



9q31-q33
* Walker-Warburg syndrome - WWS (1.37, 2.18, 2.19, 10.59)
* Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t - MDDGB4 (1.37, 2.18, 2.19, 10.59)
* fukuyama congenital muscular dystrophy - FCMD (1.37, 2.18, 2.19, 10.59)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA4 (1.37, 2.18, 2.19, 10.59)
* Cardiomyopathy, dilated, 1X - CMD1X (1.37, 2.18, 2.19, 10.59)
* Limb-Girdle, Muscular dystrophy, type 2M - LGMD2M (1.37, 2.18, 2.19, 10.59)

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 (10.102)
* cardiac valvular dysplasia, x-linked - CVD1 (10.102)

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



7q32
* Myopathy, myofibrillar, filamin C-related - MFM5 (4.18, 5.6, 10.27, 10.89)
* Myopathy, distal, 4 - MPD4 (4.18, 5.6, 10.27, 10.89)
* Cardiomyopathy, familial hypertrophic, 26 - CMH26 (4.18, 5.6, 10.27, 10.89)

FLVCR1
Feline leukemia subgroup C receptor 1



1q32.3
* Ataxia, posterior column, with retinitis pigmentosa (PCARP) - AXPC1 (14.110)

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



16q12
* Amyotrophic lateral sclerosis - ALS6 (12.49)

FXN
Frataxin(M)



9q13-q21.1
* Friedreich ataxia - FRDA (13.51)
* Friedreich ataxia with retained reflexes - FARR (13.51)

FXR1
FMR1 autosomal homolog



3q26.33
* Congenital multi-minicore myopathy - (3.57)