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Dystonia, chorea or related movement disorder, adult onset v6.6 TIMM8A Ida Ertmanska commented on gene: TIMM8A: Comment on mode of inheritance: As there are at least 3 unrelated symptomatic females reported in literature with heterozygous TIMM8A variants, the MOI should be changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males).
Dystonia, chorea or related movement disorder, adult onset v6.6 TIMM8A Ida Ertmanska Phenotypes for gene: TIMM8A were changed from Mohr-Tranebjaerg syndrome, OMIM:304700 to Mohr-Tranebjaerg syndrome, OMIM:304700; deafness dystonia syndrome, MONDO:0010578
Dystonia, chorea or related movement disorder, adult onset v6.5 TIMM8A Ida Ertmanska Publications for gene: TIMM8A were set to 22736418; 32820032
Dystonia, chorea or related movement disorder, adult onset v6.4 TIMM8A Ida Ertmanska Tag Q3_26_MOI tag was added to gene: TIMM8A.
Dystonia, chorea or related movement disorder, adult onset v6.4 TIMM8A Ida Ertmanska edited their review of gene: TIMM8A: Changed publications to: 11601506, 22736418, 40597358
Dystonia, chorea or related movement disorder, adult onset v6.4 TIMM8A Ida Ertmanska changed review comment from: PMID: 40597358 Ventura et al., 2025
Report of a 16yo male with 6-year history of progressive dystonia, motor coordination difficulties, and iron deposits in the basal ganglia detected by brain MRI; no hearing loss. WES detected a hemizygous TIMM8A variant c.98_101dupAGCA.
The variant was inherited from a heterozygous mother, 43yo, who had recurrent muscle spasms - confirmed generalized dystonia, particularly affecting the upper extremities and cervical muscles. Maternal uncle showed motor clumsiness and finger spasms in childhood. Neither had hearing loss or visual impairment.

PMID: 22736418 Ha et al., 2012
Report of a female proband (kindred B) heterozygous for a TIMM8A variant c.127del, p.Cys43Valfs*22. She presented with deafness (onset in early 40s) and dystonia (initially in right upper limb) with onset in mid 40s. Dystonia progressed to oromandibular, upper limbs, and lower limbs. Cognitive decline was noted in her 50s.; to: PMID: 40597358 Ventura et al., 2025
Report of a 16yo male with 6-year history of progressive dystonia, motor coordination difficulties, and iron deposits in the basal ganglia detected by brain MRI; no hearing loss. WES detected a hemizygous TIMM8A variant c.98_101dupAGCA.
The variant was inherited from a heterozygous mother, 43yo, who had recurrent muscle spasms - confirmed generalized dystonia, particularly affecting the upper extremities and cervical muscles. Maternal uncle showed motor clumsiness and finger spasms in childhood. Neither had hearing loss or visual impairment.

PMID: 22736418 Ha et al., 2012
Report of a female proband (kindred B) heterozygous for a TIMM8A variant c.127del, p.Cys43Valfs*22. She presented with deafness (onset in early 40s) and dystonia (initially in right upper limb) with onset in mid 40s. Dystonia progressed to oromandibular, upper limbs, and lower limbs. Cognitive decline was noted in her 50s.

PMID: 11601506 Swerdlow & Wooten, 2001
Kindred with Mohr-Tranebjaerg syndrome. Proband is a 30yo male with congenital deafness, and generalised dystonia starting around 28yo. Proband's mother reported head shaking, chronic neck muscle pain, and writer's cramp since age 25yrs. 1 female sibling of the proband was unaffected, while the other reported head shaking and writer's cramp with onset in late teens / early 20s. Affected patients harboured TIMM8A (old name DDP1) c.108del.
Dystonia, chorea or related movement disorder, adult onset v6.4 TIMM8A Ida Ertmanska edited their review of gene: TIMM8A: Changed phenotypes to: Mohr-Tranebjaerg syndrome, OMIM:304700, deafness dystonia syndrome, MONDO:0010578
Dystonia, chorea or related movement disorder, adult onset v6.4 TIMM8A Ida Ertmanska edited their review of gene: TIMM8A: Changed publications to: 22736418, 40597358
Dystonia, chorea or related movement disorder, adult onset v6.4 TIMM8A Ida Ertmanska changed review comment from: PMID: 22736418 Ha et al., 2012
Report of a female proband (kindred B) heterozygous for a TIMM8A variant c.127del, p.Cys43Valfs*22. She presented with deafness (onset in early 40s) and dystonia (initially in right upper limb) with onset in mid 40s. Dystonia progressed to oromandibular, upper limbs, and lower limbs.; to: PMID: 40597358 Ventura et al., 2025
Report of a 16yo male with 6-year history of progressive dystonia, motor coordination difficulties, and iron deposits in the basal ganglia detected by brain MRI; no hearing loss. WES detected a hemizygous TIMM8A variant c.98_101dupAGCA.
The variant was inherited from a heterozygous mother, 43yo, who had recurrent muscle spasms - confirmed generalized dystonia, particularly affecting the upper extremities and cervical muscles. Maternal uncle showed motor clumsiness and finger spasms in childhood. Neither had hearing loss or visual impairment.

PMID: 22736418 Ha et al., 2012
Report of a female proband (kindred B) heterozygous for a TIMM8A variant c.127del, p.Cys43Valfs*22. She presented with deafness (onset in early 40s) and dystonia (initially in right upper limb) with onset in mid 40s. Dystonia progressed to oromandibular, upper limbs, and lower limbs. Cognitive decline was noted in her 50s.
Dystonia, chorea or related movement disorder, adult onset v6.4 TIMM8A Ida Ertmanska changed review comment from: PMID: 22736418 Ha et al., 2012
Report of a female proband (kindred B) hemizygous for a TIMM8A variant c.127del, p.Cys43Valfs*22. She presented with deafness (onset in early 40s) and dystonia (initially in right upper limb) with onset in mid 40s. Dystonia progressed to oromandibular, upper limbs, and lower limbs.; to: PMID: 22736418 Ha et al., 2012
Report of a female proband (kindred B) heterozygous for a TIMM8A variant c.127del, p.Cys43Valfs*22. She presented with deafness (onset in early 40s) and dystonia (initially in right upper limb) with onset in mid 40s. Dystonia progressed to oromandibular, upper limbs, and lower limbs.
Dystonia, chorea or related movement disorder, adult onset v6.4 TIMM8A Ida Ertmanska reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22736418; Phenotypes: Mohr-Tranebjaerg syndrome, OMIM:304700; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Dystonia, chorea or related movement disorder, adult onset v1.94 TIMM8A Arina Puzriakova Publications for gene: TIMM8A were set to 22736418
Dystonia, chorea or related movement disorder, adult onset v1.93 TIMM8A Arina Puzriakova Phenotypes for gene: TIMM8A were changed from Mohr-Tranebjaerg syndrome, 304700; Deafness-Dystonia-Optic Neuronopathy Syndrome to Mohr-Tranebjaerg syndrome, OMIM:304700
Dystonia, chorea or related movement disorder, adult onset v1.5 TIMM8A Arina Puzriakova reviewed gene: TIMM8A: Rating: ; Mode of pathogenicity: None; Publications: 32820032; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dystonia, chorea or related movement disorder, adult onset v0.125 TIMM8A Louise Daugherty Mode of inheritance for gene: TIMM8A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dystonia, chorea or related movement disorder, adult onset v0.59 TIMM8A Louise Daugherty Classified gene: TIMM8A as Green List (high evidence)
Dystonia, chorea or related movement disorder, adult onset v0.59 TIMM8A Louise Daugherty Gene: timm8a has been classified as Green List (High Evidence).
Dystonia, chorea or related movement disorder, adult onset v0.50 TIMM8A Louise Daugherty reviewed gene: TIMM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dystonia, chorea or related movement disorder, adult onset v0.49 TIMM8A Emily Jones reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: 22736418; Phenotypes: Mohr-Tranebjaerg syndrome, 304700; Mode of inheritance:
Dystonia, chorea or related movement disorder, adult onset v0.48 TIMM8A Louise Daugherty Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A
Publications for gene TIMM8A were changed from to 22736418
Dystonia, chorea or related movement disorder, adult onset v0.47 TIMM8A Louise Daugherty Source NHS GMS was added to TIMM8A.
Dystonia, chorea or related movement disorder, adult onset v0.46 TIMM8A Louise Daugherty Source South West GLH was added to TIMM8A.
Dystonia, chorea or related movement disorder, adult onset v0.2 TIMM8A Ellen McDonagh gene: TIMM8A was added
gene: TIMM8A was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: TIMM8A was set to
Phenotypes for gene: TIMM8A were set to Deafness-Dystonia-Optic Neuronopathy Syndrome