| REPORT | GENE | VARIANTS | RELEVANT ETHNICITIES |
|---|---|---|---|
| ARSACS | SACS | 1 Variant | French Canadian |
| Agenesis of the Corpus Callosum with Peripheral Neuropathy | SLC12A6 | 1 Variant | French Canadian |
| Autosomal Recessive Polycystic Kidney Disease | PKHD1 | 3 Variants | N/A |
| Beta Thalassemia and Related Hemoglobinopathies | HBB | 10 Variants | Cypriot, Greek, Italian, Sardinian |
| Bloom Syndrome | BLM | 1 Variant | Ashkenazi Jewish |
| Canavan Disease | ASPA | 3 Variants | Ashkenazi Jewish |
| Congenital Disorder of Glycosylation Type 1a (PMM2-CDG) | PMM2 | 2 Variants | Danish |
| Cystic Fibrosis | CFTR | 28 Variants | European, Hispanic/Latino, Ashkenazi Jewish |
| D-Bifunctional Protein Deficiency | HSD17B4 | 2 Variants | N/A |
| Dihydrolipoamide Dehydrogenase Deficiency | DLD | 1 Variant | Ashkenazi Jewish |
| Familial Dysautonomia | IKBKAP | 1 Variant | Ashkenazi Jewish |
| Fanconi Anemia Group C | FANCC | 3 Variants | Ashkenazi Jewish |
| GRACILE Syndrome | BCS1L | 1 Variant | Finnish |
| Glycogen Storage Disease Type Ia | G6PC | 1 Variant | Ashkenazi Jewish |
| Glycogen Storage Disease Type Ib | SLC37A4 | 2 Variants | N/A |
| Hereditary Fructose Intolerance | ALDOB | 3 Variants | European |
| Herlitz Junctional Epidermolysis Bullosa (LAMB3-related) | LAMB3 | 3 Variants | N/A |
| Leigh Syndrome, French Canadian Type | LRPPRC | 1 Variant | French Canadian |
| Limb-Girdle Muscular Dystrophy Type 2D | SGCA | 1 Variant | Finnish |
| Limb-Girdle Muscular Dystrophy Type 2E | SGCB | 1 Variant | Southern Indiana Amish |
| Limb-Girdle Muscular Dystrophy Type 2I | FKRP | 1 Variant | European |
| MCAD Deficiency | ACADM | 3 Variants | Northern European |
| Maple Syrup Urine Disease Type 1B | BCKDHB | 2 Variants | Ashkenazi Jewish |
| Mucolipidosis Type IV | MCOLN1 | 1 Variant | Ashkenazi Jewish |
| Neuronal Ceroid Lipofuscinosis (CLN5-Related) | CLN5 | 1 Variant | Finnish |
| Neuronal Ceroid Lipofuscinosis (PPT1-Related) | PPT1 | 3 Variants | Finnish |
| Niemann-Pick Disease Type A | SMPD1 | 3 Variants | Ashkenazi Jewish |
| Nijmegen Breakage Syndrome | NBN | 1 Variant | Eastern European |
| Nonsyndromic Hearing Loss and Deafness, DFNB1 (GJB2-Related) | GJB2 | 2 Variants | Ashkenazi Jewish, European |
| Pendred Syndrome and DFNB4 Hearing Loss | SLC26A4 | 6 Variants | N/A |
| Phenylketonuria and Related Disorders | PAH | 23 Variants | Northern European |
| Primary Hyperoxaluria Type 2 | GRHPR | 1 Variant | European |
| Rhizomelic Chondrodysplasia Punctata Type 1 | PEX7 | 1 Variant | N/A |
| Salla Disease | SLC17A5 | 1 Variant | Finnish, Swedish |
| Sickle Cell Anemia | HBB | 1 Variant | African |
| Sjögren-Larsson Syndrome | ALDH3A2 | 1 Variant | Swedish |
| Tay-Sachs Disease | HEXA | 4 Variants | Ashkenazi Jewish, Cajun |
| Tyrosinemia Type I | FAH | 4 Variants | French Canadian, Finnish |
| Usher Syndrome Type 1F | PCDH15 | 1 Variant | Ashkenazi Jewish |
| Usher Syndrome Type 3A | CLRN1 | 1 Variant | Ashkenazi Jewish |
| Zellweger Syndrome Spectrum (PEX1-Related) | PEX1 | 1 Variant | N/A |
Autosomal Recessive Spastic Ataxia of the Charlevoix-Saguenay (ARSACS) is a hereditary progressive neurological disorder that primarily affects people from the Saguenay–Lac-Saint-Jean and Charlevoix regions of Quebec or descendants of native settlers in this region. This disorder has also been demonstrated in people from various other countries including India.[5] It is characterized by degeneration of the spinal cord and progressive damage of the peripheral nerves. The disorder is caused by a gene mutation on chromosome 13 (SACS) of the 22 chromosomes that determine characteristics that are not related to sex. This is an autosomal recessive disorder, meaning that both parents must be carriers of the gene in order to have a 25% chance of their child having the disorder at each pregnancy.[6] Mutations of the gene is usually a deletion or replacement of a nucleotide in the SACS gene. The mutation of the SACS gene causes the production of an unstable, poorly functioning SACSIN protein. It is unclear as to how this mutation affects the central nervous system (CNS) and skeletal muscles presenting in the signs and symptoms of ARSACS.[7]
ARSACS is usually diagnosed in early childhood, approximately 12–24 months of age when a child begins to take their first steps. It is a lack of coordination and balance during gait that is first noticed. Children with the disorder take frequent falls and appear to have an unsteady (Ataxic) gait. Some of the signs and symptoms include:[8] Stiffness of the legs, appendicular and trunk ataxia, hollow foot and hand deformities, ataxic dysarthria, distal muscle wasting, horizontal gaze nystagmus, and spasticity.[
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