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NA27290
DNA
from
LCL
Description:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25; EIEE25
SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT CITRATE TRANSPORTER), MEMBER 5; SLC13A5
Affected:
No
Sex:
Female
Age:
38
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Overview
Repository
NIGMS Human Genetic Cell Repository
Subcollection
Heritable Diseases
PIGI Consented Sample
Quantity
25 µg
Quantitation Method
Please see our
FAQ
Biopsy Source
Peripheral vein
Cell Type
B-Lymphocyte
Tissue Type
Blood
Transformant
Epstein-Barr Virus
Sample Source
DNA from LCL
Race
White
Ethnicity
Not Hispanic/Latino
Ethnicity
Italian, German
Country of Origin
USA
Family Member
3
Family History
Y
Relation to Proband
mother
Species
Homo
sapiens
Common Name
Human
Remarks
Clinically unaffected mother of 2 affected children (GM27288 and GM27289); See Phenotypic Data Tab
Characterizations
IDENTIFICATION OF SPECIES OF ORIGIN
Species of Origin Confirmed by LINE assay
Gene
SLC13A5
Chromosomal Location
17p13.1
Allelic Variant 1
p.LEU492PRO (p.L492P); EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA; EIEE25
Identified Mutation
c.1475T>C (p.L492P)
Phenotypic Data
Demographic Data
Relation to Proband
mother
Age at Sampling
38 YR
Sex
Female
Hispanic or Latino/Not Hispanic or Latino
Not Hispanic/Latino
Racial Category
White
Country
USA
Data Elements
Clinical Element Type: General NIGMS Catalog Remarks
(Baseline)
Mutation Information
Gene, variant, consequence, and exon number:
SANGER SEQUENCING REVEALED THIS INDIVIDUAL IS HETEROZYGOUS FOR THE C.1475T>C (P.L492P) IN EXON 11 OF THE SLC13A5 GENE
Zygosity:
Heterozygous
Notes:
CLINICALLY UNAFFECTED MOTHER OF 2 AFFECTED CHILDREN; BOTH CHILDREN (GM27288 & GM27289) ARE COMPOUND HETEROZYGOUS FOR TWO VARIANTS IN THE SLC13A5 GENE: SLC13A5 C.655G>A (P.G219R) EXON 5; SLC13A5 C.1475T>C (P.L492P) EXON 11
Other variants:
No Data
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:
No Data
Age at Diagnosis:
No Data
In Utero History Information
Abnormal fetal heart rate or rhythm
Fetal growth issues
Advanced maternal age
Decreased fetal movement
Intrauterine growth restriction
Oligohydramnios
Polyhydramnios
Assisted reproduction
Additional Information:
No Data
Birth History Information
Low birth weight
Jaundice
Difficulty breathing
Abnormal serum screen
Failure to thrive
Positive newborn screen
Caesarian section
Neural tube defect
Meconium ileus
Gastroischisis
Premature delivery
Additional Information:
No Data
Dysmorphic Features
Strabismus
Coarse facies
Short philtrum
Wide mouth
Cleft lip
Cleft palate
Cupped ears
Thick fleshy lips
Widely-spaced teeth
Tented cupid
Fetal pads
Simian crease
Abnormal hands or feet
Hypertelorism
Hypotelorism
Macrocephaly
Microcephaly
Holoprosencephaly
Additional Information:
No Data
Neurological Symptoms
Neuropathy:
No Data
Lissencephaly
Cerebral palsy
Corpus callosum abnormalities
Ataxia
Chorea
Dystonia
Hypertonia
Hypotonia
Seizures
Structural brain anomaly
Hydrocephalus
Sleep abnormalities
Polymicrogyria
Unstable gait
Dandy walker
White matter issues
Basal ganglia damage
Additional Information:
No Data
Optical and Audiological Symptoms
Defective vision
Pupil abnormality
Cornea abnormality
Nystagmus
Optic disk palor
Optic nerve damage
Blindness
Deafness
Defective hearing
Blepharitis
Congenital exotropia
Alacrima
Additional Information:
No Data
Musculoskeletal Symptoms
Acromelia
Rhizomelia
Club foot
Contractures
Scoliosis
Kyphosis
Skeletal dysplasia
Vertebral anomalies
Non-ambulatory
Additional Information:
No Data
Developmental Milestones
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
Delayed gross motor skills
Abnormal height for age
Abnormal weight for age
Holding Head Up Without Assistance:
No Data
Sitting Without Assistance:
No Data
Walking Without Assistance:
No Data
Running:
No Data
Additional Information:
No Data
Gastrointestinal Symptoms
Hepatosplenomegaly
Pyloric stenosis
Hirschsprung
Bloating
Constipation
Gastrointestinal reflux
Eating difficulties
Cholecystectomy
Liver abnormalities
Pancreatitis
Esophageal atresia
Additional Information:
No Data
Genitourinary Symptoms
Kidney abnormalities
Abnormalities of the ureter
Abnormalities of the urethra
Polycystic kidneys
Renal agenesis
Urethral obstruction
Hydronephrosis
Megacystis
Urinary tract infection
Ovarian cancer
Cryptorchidism
Ambiguous genitalia
Additional Information:
No Data
Respiratory and Cardiovascular Symptoms
Hypoplastic left heart
Hypoplastic right heart
Coarctation of aorta
Atrial septal defect
AV canal defect
Tetralogy of fallot
Truncus arteriosus
Ebstein anomaly
Heart murmur
Poor circulation
Breathing irregularities
Pneumothorax
Diaphragmatic hernia
Asthma
Pulmonary valve atresia
Additional Information:
No Data
Cognitive and Behavioral Symptoms
Happy personality
Anxiety
Mood disorder
Behavioral problems
Autism spectrum disorder
Sensory processing disorder
Aggression
Memory loss
Sleep disturbances
Learning disability
Attention deficit hyperactivity disorder
Intellectual Disability:
No Data
Additional Information:
No Data
Additional Information
Uncategorized Symptoms:
No Data
Testing Performed
Neurological Testing:
No Data
Optical and Audiological Testing:
No Data
Musculoskeletal and Developmental Testing:
No Data
Respiratory and Cardiovascular Testing:
No Data
Cognitive and Behavioral Testing:
No Data
Metabolic, Hematologic, and Endocrinologic Testing:
No Data
Uncategorized Testing:
No Data
Treatments and Assistive Devices
Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
Orthotics
Service animal
Hearing aid
Communication or learning devices
music therapy
horseback therapy
craniosacral therapy
glasses
Surgeries
No Data
Additional Testing:
No Data
Medications
No Data
Family History
No Data
External Links
Gene Cards
SLC13A5
Gene Ontology
GO:0005215 transporter activity
GO:0006814 sodium ion transport
GO:0016020 membrane
NCBI Gene
Gene ID:284111
NCBI GTR
608305 SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT CITRATE TRANSPORTER), MEMBER 5; SLC13A5
615905 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25, WITH AMELOGENESIS IMPERFECTA; DEE25
OMIM
608305 SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT CITRATE TRANSPORTER), MEMBER 5; SLC13A5
615905 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25, WITH AMELOGENESIS IMPERFECTA; DEE25
Pricing
Commercial/For-profit:
$225.00
USD
Academic/Non-profit/Government:
$113.00
USD
Add to Cart
How to Order
Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form
Related Products
Same Subject
GM27290 - B-Lymphocyte
Same Family
3418
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