CHD5 Chromosome 1
Chromodomain helicase DNA binding protein 5
Upload your DNA to see your personal genotypes for variants in CHD5.
What This Gene Does
This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]
Gene Info
Gene Group
"PHD finger proteins|SNF2 related family|NuRD complex subunits"
Locus Type
gene with protein product
Location
1p36.31
Ensembl
ENSG00000116254
Associated Conditions (8)
Neurodevelopmental disorder
CHD5-related disorder
Global developmental delay
Seizure
Intellectual disability
Inborn genetic diseases
Parenti-mignot neurodevelopmental syndrome
Neurodevelopmental delay
Key Variants
RS139581412
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, CHD5-related disorder, Neurodevelopmental disorder
Health Risk
RS1434726192
Conflicting classifications of pathogenicity
Global developmental delay, Seizure, Intellectual disability
Health Risk
RS146062488
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1667056923
Conflicting classifications of pathogenicity
Global developmental delay, Intellectual disability, Parenti-mignot neurodevelopmental syndrome
Health Risk
RS749319838
Conflicting classifications of pathogenicity
Health Risk
RS754586094
Conflicting classifications of pathogenicity
Seizure, Parenti-mignot neurodevelopmental syndrome, Inborn genetic diseases
Health Risk
RS1162494442
Likely pathogenic
Global developmental delay, Seizure, Global developmental delay
Health Risk
RS1571164162
Likely pathogenic
Global developmental delay, Global developmental delay
Health Risk
RS2100842233
Likely pathogenic
Global developmental delay, Seizure, Intellectual disability
Health Risk
RS2100843378
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2100846484
Likely pathogenic
Seizure, Parenti-mignot neurodevelopmental syndrome, Seizure
Health Risk
RS2100851477
Likely pathogenic
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139581412 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, CHD5-related disorder, Neurodevelopmental disorder |
| RS1434726192 | Health Risk | Conflicting classifications of pathogenicity | Global developmental delay, Seizure, Intellectual disability |
| RS146062488 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1667056923 | Health Risk | Conflicting classifications of pathogenicity | Global developmental delay, Intellectual disability, Parenti-mignot neurodevelopmental syndrome |
| RS749319838 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS754586094 | Health Risk | Conflicting classifications of pathogenicity | Seizure, Parenti-mignot neurodevelopmental syndrome, Inborn genetic diseases |
| RS1162494442 | Health Risk | Likely pathogenic | Global developmental delay, Seizure, Global developmental delay |
| RS1571164162 | Health Risk | Likely pathogenic | Global developmental delay, Global developmental delay |
| RS2100842233 | Health Risk | Likely pathogenic | Global developmental delay, Seizure, Intellectual disability |
| RS2100843378 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2100846484 | Health Risk | Likely pathogenic | Seizure, Parenti-mignot neurodevelopmental syndrome, Seizure |
| RS2100851477 | Health Risk | Likely pathogenic | — |
| RS2100860639 | Health Risk | Likely pathogenic | Global developmental delay, Global developmental delay |
| RS2100863089 | Health Risk | Likely pathogenic | Global developmental delay, Global developmental delay |
| RS2100868745 | Health Risk | Likely pathogenic | Global developmental delay, Seizure, Parenti-mignot neurodevelopmental syndrome |
| RS2525311581 | Health Risk | Likely pathogenic | Parenti-mignot neurodevelopmental syndrome, Parenti-mignot neurodevelopmental syndrome |
| RS2525363379 | Health Risk | Likely pathogenic | Parenti-mignot neurodevelopmental syndrome, Parenti-mignot neurodevelopmental syndrome |
| RS2525372237 | Health Risk | Likely pathogenic | Parenti-mignot neurodevelopmental syndrome, Parenti-mignot neurodevelopmental syndrome |
| RS2525387042 | Health Risk | Likely pathogenic | Parenti-mignot neurodevelopmental syndrome, Parenti-mignot neurodevelopmental syndrome |
| RS2525395003 | Health Risk | Likely pathogenic | Parenti-mignot neurodevelopmental syndrome, Parenti-mignot neurodevelopmental syndrome |
| RS2525419467 | Health Risk | Likely pathogenic | — |
| RS2525419753 | Health Risk | Likely pathogenic | — |
| RS371488822 | Health Risk | Likely pathogenic | Global developmental delay, Seizure, Intellectual disability |
| RS760743983 | Health Risk | Likely pathogenic | Seizure, CHD5-related disorder, Seizure |
| RS781200968 | Health Risk | Likely pathogenic | Global developmental delay, Seizure, Intellectual disability |
| RS1223406120 | Health Risk | Pathogenic | — |
| RS2525378715 | Health Risk | Pathogenic | — |
| RS2525426371 | Health Risk | Pathogenic | — |
| RS753070352 | Health Risk | Pathogenic | — |
| RS1474624774 | Health Risk | Pathogenic/Likely pathogenic | Global developmental delay, Intellectual disability, Global developmental delay |
| RS2100843382 | Health Risk | Pathogenic/Likely pathogenic | Global developmental delay, Intellectual disability, Parenti-mignot neurodevelopmental syndrome |
| RS2100847449 | Health Risk | Pathogenic/Likely pathogenic | Global developmental delay, Seizure, Intellectual disability |