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 (15.36)
* Dysmyelinating leukodystrophy - FAHN (15.36)

FAM111B
family with sequence similarity 111 member B



11q12.1
* Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis - POIKTMP (16.32)

FAM134B
family with sequence similarity 134 member B



5p15.1
* Hereditary sensory neuropathy, type IIB - HSAN2B (14.82)

FARS2
Phenylalanine--tRNA ligase(M)



6p25.1
* Spastic paraplegia 77, autosomal recessive - SPG77 (15.60)

FBLN5
Fibulin 5 (extra-cellular matrix)



14q32.12
* Charcot-Marie-Tooth neuropathy, with fibulin defect - (14.10)

FBXO38
F-box protein 38



5q32
* Distal Spinal Muscular Atrophy with Calf Predominance - HMN2D (12.28)

FGD4
Actin-filament binding protein Frabin



12p11.21
* Charcot-Marie-Tooth neuropathy Type 4H - CMT4H (14.27)

FGF14
Fibroblast growth factor 14



13q34
* Spinocerebellar ataxia 27 - SCA27 (13.25)

FHL1
Four and a half LIM domain 1



Xq26.3
* Scapuloperoneal myopathy, X-linked dominant - SPM (1.3, 2.14, 5.21, 5.22, 5.23)
* Emery-dreifuss muscular dystrophy 6 - EDMD6 (1.3, 2.14, 5.21, 5.22, 5.23)
* X-linked myopathy with postural muscle atrophy - XMPMA (1.3, 2.14, 5.21, 5.22, 5.23)
* Myopathy, reducing body, X-linked, childhood-onset - (1.3, 2.14, 5.21, 5.22, 5.23)
* Rigid spine syndrome related to FHL1 - RSS (1.3, 2.14, 5.21, 5.22, 5.23)
* Myopathy, reducing body, X-linked, severe early-onset - (1.3, 2.14, 5.21, 5.22, 5.23)
* Rigid spine syndrome - RSMD1 (1.3, 2.14, 5.21, 5.22, 5.23)

FIG4
Sac domain-containing inositol phosphatase 3



6q21
* charcot-marie-tooth disease, type 4j - CMT4J (12.49, 14.28)
* Amyotrophic lateral sclerosis 11 - ALS11 (12.49, 14.28)

FKRP
Fukutin-related protein



19q13.32
* Walker-Warburg syndrome - WWS (1.29, 2.23, 2.29, 2.32)
* Muscle-eye-brain disease - MEB (1.29, 2.23, 2.29, 2.32)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA5 (1.29, 2.23, 2.29, 2.32)
* Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda - MDDGB5 (1.29, 2.23, 2.29, 2.32)
* Muscular dystrophy, limb-girdle, type 2I - LGMD2I (1.29, 2.23, 2.29, 2.32)

FKTN
Fukutin



9q31-q33
* Walker-Warburg syndrome - WWS (1.33, 2.19, 2.20, 10.56)
* Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t - MDDGB4 (1.33, 2.19, 2.20, 10.56)
* fukuyama congenital muscular dystrophy - FCMD (1.33, 2.19, 2.20, 10.56)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA4 (1.33, 2.19, 2.20, 10.56)
* Cardiomyopathy, dilated, 1X - CMD1X (1.33, 2.19, 2.20, 10.56)
* Limb-Girdle, Muscular dystrophy, type 2M - LGMD2M (1.33, 2.19, 2.20, 10.56)

FLNA
Filamin A, alpha (actin binding protein 280)



Xq28
* Myxomatous valvular dystrophy, X-ninked - XMVD (10.77)
* cardiac valvular dysplasia, x-linked - CVD1 (10.77)

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



7q32
* Myopathy, myofibrillar, filamin C-related - MFM5 (4.16, 5.8)
* Myopathy, distal, 4 - MPD4 (4.16, 5.8)

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



16q12
* Amyotrophic lateral sclerosis - ALS6 (12.44)

FXN
Frataxin(M)



9q13-q21.1
* Friedreich ataxia - FRDA (13.46)
* Friedreich ataxia with retained reflexes - FARR (13.46)