Table 1 The 76 diseases and associated 75 genes analyzed in this study (classified as haploinsufficient; paralog rescue, or hypomorph categories)
Gene | Disorder | OMIM# | Fibroblast screen? | CMAP data? | CNS disease? |
|---|---|---|---|---|---|
HAPLOINSUFFICIENT | |||||
AFG3L2 | Spinocerebellar ataxia type 28 | 610246 | yes | yes | yes |
ATP1A2 | Familial hemiplegic migraine type 2 | 602481 | no | yes | yes |
COL6A1 | Bethlem myopathy | 158810 | yes | yes | no |
CSF1R | Hereditary diffuse leukoencephalopathy with spheroids | 221820 | no | yes | yes |
GRN | Frontotemporal lobar degeneration with ubiquitin-positive inclusions | 607485 | no | yes | yes |
ITPR1 | Spinocerebellar ataxia type 15 | 606658 | yes | yes | yes |
MAPT | Dementia, frontotemporal, with or without parkinsonism | 600274 | no | yes | yes |
MPZ | Charcot-Marie-Tooth disease type 1B | 118200 | no | yes | yes |
NKX2-1 | Chorea, hereditary benign | 118700 | no | yes | yes |
OPA1 | Optic atrophy type 1 | 605290 | yes | yes | yes |
PMP22 | Hereditary neuropathy with liability to pressure palsies | 162500 | yes | yes | yes |
SCN1A | Dravet syndrome | 607208 | yes | yes | yes |
SLC2A1 | GLUT1 deficiency | 612126 | yes | yes | yes |
SMAD3 | Familial thoracic aneurysm/ Loeys Dietz syndrome type 3 | 613795 | yes | yes | no |
SPAST | Hereditary spastic paraparesis type 4 | 182601 | yes | yes | yes |
PARALOG RESCUE ( paralog target ) | |||||
ABCD1 (ABCD2) | X-adrenoleukodystrophy | 300100 | no | yes | yes |
DDHD2 (DDHD1) | Complex hereditary spastic paraplegia (SPG 54) | 615033 | yes | no | yes |
FBN1 (FBN2) | Marfan syndrome | 154700 | yes | yes | no |
LIMS2 (LIMS1) | Limb girdle muscular dystrophy with cardiomyopathy type, 2W | 616827 | yes | yes | no |
SLC39A8 (SLC39A14) | Congenital disorder of glycosylation, type IIn | 616721 | yes | yes | yes |
HYPOMORPH | |||||
ACADVL | ACADVL deficiency (VLCAD) | 201475 | no | yes | no |
AGPAT2 | Lipodystrophy, congenital generalized, type 1 | 608594 | no | yes | no |
AGXT | Primary hyperoxaluria | 259900 | no | yes | no |
ALDH18A1 | Cutis laxa, autosomal recessive, type IIIA | 219150 | no | yes | yes |
AMACR | Apha-methylacyl-CoA racemase deficinecy | 614307 | no | yes | yes |
ARSA | Metachromatic leukodystrophy | 250100 | yes | yes | yes |
ASAH1 | Farber disease | 228000 | yes | yes | yes |
Spinal muscular atrophy with progressive myoclonic epilepsy | 159950 | ||||
ASL | Argininosuccinic aciduria | 207900 | no | yes | yes |
ASPA | Canavan disease | 271900 | no | yes | yes |
ATP7A | Occipital horn syndrome | 304150 | yes | yes | no |
ATP7B | Wilson disease | 277900 | yes | yes | yes |
BCKDHA | Maple syrup urine disease (intermediate), type Ia | 248600 | yes | yes | yes |
BCKDHB | Maple Syrup urine disease (Intermediate), type Ib | 248600 | yes | yes | yes |
BSCL2 | Lipodystrophy, congenital generalized, type 2 | 269700 | yes | yes | no |
CLN3 | Ceroid lipofuscinosis type 3 (Batten disease) | 204200 | yes | yes | yes |
CPT2 | Carnitine palmitoyltransferase II deficiency | 255110 | yes | yes | no |
CTSA | Galactosialidosis | 256540 | yes | yes | yes |
DDHD2 | Complex hereditary spastic paraplegia (SPG 54) | 615033 | no | yes | yes |
EIF2B5 | Central hypomyelination and vanishing white matter disease | 603896 | yes | yes | yes |
ETFA | Glutaric acidemia type 2 | 231680 | yes | no | no |
FH | Fumarase deficiency | 606812 | yes | yes | yes |
FKRP | Limb girdle muscular dystrophy type 5C | 607155 | no | yes | no |
GAA | Glycogen storage disease type 2/Pompe | 232300 | yes | yes | no |
GALC | Krabbe disease | 245200 | yes | yes | yes |
GALNS | Mucopolysaccharidosis IVA | 612222 | yes | yes | no |
GALT | Galactosemia | 230400 | yes | yes | no |
GBE1 | Glycogen storage disease type IV | 232500 | yes | yes | no |
GLB1 | Mucopolysaccharidosis type IVB (Morquio) | 253010 | yes | yes | no |
GM1-gangliosidoses Type 3 | 230650 | ||||
GUSB | Mucopolysaccharidoses VII | 253220 | yes | yes | yes |
HARS | Usher syndrome | 614504 | yes | yes | yes |
HEXA | Tay Sachs disease | 272800 | yes | yes | yes |
HEXB | Sandhoff disease | 268800 | yes | yes | yes |
HPRT1 | Kelley-Seegmiller syndrome | 300323 | yes | yes | no |
HSD11B2 | Mineralocorticoid Excess | 218030 | no | yes | no |
HSD17B4 | D-bifunctional protein deficiency | 261515 | yes | yes | yes |
IDS | Mucopolysaccharidoses II | 309900 | yes | yes | yes |
IDUA | Mucopolysaccharidoses I | 607014 | no | yes | yes |
MAN2B1 | Alpha-mannosidosis type I | 248500 | yes | yes | yes |
MUT | Methylmalonic aciduria, mut type | 251000 | yes | yes | yes |
NEU1 | Sialidosis type 1 | 256550 | yes | yes | yes |
OTC | Ornithine transcarbamylase deficiency | 300461 | no | yes | yes |
PHYH | Adult Refsum disease | 266500 | yes | yes | yes |
PLP1 | PLP1-related disorders | 312080 | no | yes | yes |
PMM2 | Congenital disorder of glycosylation type 1C | 212065 | yes | yes | yes |
POLR3A | Leukodystrophy, hypomyelinating, 7 | 607694 | yes | no | yes |
PPT1 | Ceroid lipofuscinosis type1 | 600722 | yes | yes | yes |
SACS | ARSACS | 270550 | yes | yes | yes |
SBDS | Shwachman-Bodian-Diamond syndrome | 260400 | yes | no | no |
SCARB2 | Action myoclonus renal failure syndrome | 254900 | yes | yes | yes |
SGSH | Mucopolysaccharidoses III | 252900 | no | yes | yes |
SLC16A2 | Allan-Herndon-Dudley syndrome | 300523 | no | yes | yes |
SLC52A2 | Brown-Vialetto-VanLaere Sensory neuropathy | 614707 | no | yes | yes |
SLC6A8 | Creatine transporter deficiency | 300352 | no | yes | yes |
SUMF1 | Multiple sulfatase deficiency | 272200 | yes | no | yes |
TYMP | Mitochondrial DNA depletion syndrome type 1 | 603041 | yes | yes | yes |
METABOLIC BYPASS | |||||
NEU1 | Tay Sachs disease | 272800 | yes | yes | yes |
