CHD7-related CHARGE syndrome: genes and variants
CHD7-related CHARGE syndrome is linked to 1 analyzed protein (CHD7). 8 DNA variants are known to cause it; 7 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to CHD7-related CHARGE syndrome
CHD7: ATP-dependent chromatin remodeler CHD7
It regulates chromatin accessibility and developmental gene programs across multiple embryonic tissues. Haploinsufficiency is the major cause of CHARGE syndrome, which can affect the eyes, heart, choanae, growth, genital development, ears, and nervous system.
8 disease-causing and 7 uncertain variants in CHD7 are linked to CHD7-related CHARGE syndrome.
Where CHD7-related CHARGE syndrome variants cluster
- CHD7 Helicase ATP-binding (positions 980–1154): 3 of 8 disease-causing changes, 6.4× more than its size predicts.
Known disease-causing variants in CHD7-related CHARGE syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CHD7 L1020S | 1020 | Helicase ATP-binding | Disease-causing (★★) |
| CHD7 C1101R | 1101 | Helicase ATP-binding | Disease-causing (★★) |
| CHD7 R2065C | 2065 | Disease-causing (★★) | |
| CHD7 G2108R | 2108 | Disease-causing (★★) | |
| CHD7 R2319C | 2319 | Disease-causing (★★) | |
| CHD7 S699G | 699 | Disease-causing (★★) | |
| CHD7 I1028V | 1028 | Helicase ATP-binding | Disease-causing (★★) |
| CHD7 D1812G | 1812 | Disease-causing (★) |
Same protein, different disease
- CHARGE syndrome is also caused by CHD7 variants; they fall mostly in different places as the CHD7-related CHARGE syndrome variants (42 disease-causing).
- Hypogonadotropic hypogonadism 5 with or without anosmia is also caused by CHD7 variants; they fall mostly in different places as the CHD7-related CHARGE syndrome variants (7 disease-causing).
Diseases related to CHD7-related CHARGE syndrome
- CHARGE syndrome, also linked to CHD7
- Wiedemann-Steiner syndrome, also linked to CHD7
- Joubert syndrome, also linked to CHD7
- Hypogonadotropic hypogonadism 5 with or without anosmia, also linked to CHD7
- Hypogonadotropic hypogonadism, also linked to CHD7
Frequently asked questions
Which genes are linked to CHD7-related CHARGE syndrome?
In CATVariant, CHD7-related CHARGE syndrome is linked to 1 analyzed protein: CHD7 (ATP-dependent chromatin remodeler CHD7).
How many genetic variants are linked to CHD7-related CHARGE syndrome?
18 variants: 8 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 7 are of uncertain significance or have conflicting reports.
Which uncertain variants in CHD7-related CHARGE syndrome look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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