Tremor, hereditary essential, 4: genes and variants

Genes linked to Tremor, hereditary essential, 4

• FUS: RNA-binding protein FUS

  It coordinates transcription, RNA processing, transport, and stress-granule dynamics and can shuttle between nucleus and cytoplasm. Pathogenic variants can cause amyotrophic lateral sclerosis through disturbed RNA and protein homeostasis and are also associated with frontotemporal degeneration.

  13 disease-causing and 96 uncertain variants in FUS are linked to Tremor, hereditary essential, 4.

• KDM6A: Lysine-specific demethylase 6A

  It removes repressive H3K27 methylation and also contributes to chromatin regulation through demethylase-independent interactions. Germline loss-of-function variants cause Kabuki syndrome type 2, while somatic alterations occur in multiple cancers.

  2 disease-causing and 0 uncertain variants in KDM6A are linked to Tremor, hereditary essential, 4.

Known disease-causing variants in Tremor, hereditary essential, 4

Which prediction tools work for Tremor, hereditary essential, 4

How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).

• MetaLR: 100 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• AlphaMissense: 100 out of 100
• CATVariant: 99 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• SIFT: 88 out of 100
• PolyPhen-2: 49 out of 100 (learned from overlapping clinical labels, so this is optimistic)

Same protein, different disease

• Amyotrophic lateral sclerosis is also caused by FUS variants; they fall in the same places as the Tremor, hereditary essential, 4 variants (18 disease-causing).
• Kabuki syndrome is also caused by KDM6A variants; they fall mostly in different places as the Tremor, hereditary essential, 4 variants (14 disease-causing).

Diseases related to Tremor, hereditary essential, 4

• Amyotrophic lateral sclerosis, also linked to FUS
• Kabuki syndrome, also linked to KDM6A

Frequently asked questions

Which genes are linked to Tremor, hereditary essential, 4?

In CATVariant, Tremor, hereditary essential, 4 is linked to 2 analyzed proteins: FUS (RNA-binding protein FUS) and KDM6A (Lysine-specific demethylase 6A).

How many genetic variants are linked to Tremor, hereditary essential, 4?

115 variants: 15 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 96 are of uncertain significance or have conflicting reports.

Which uncertain variants in Tremor, hereditary essential, 4 look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

Which variant effect predictor works best for Tremor, hereditary essential, 4?

Among tools not trained on clinical labels, AlphaMissense separates this disease's known disease-causing variants from harmless ones best (AUROC 1.00, based on 11 disease-causing and 32 harmless variants).

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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