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Hereditary neuropathy or pain disorder v8.17 DHTKD1 Arina Puzriakova Tag Q3_26_expert_review tag was added to gene: DHTKD1.
Hereditary neuropathy or pain disorder v8.14 DHTKD1 Ida Ertmanska Tag Q3_26_NHS_review tag was added to gene: DHTKD1.
Hereditary neuropathy or pain disorder v8.14 DHTKD1 Ida Ertmanska Phenotypes for gene: DHTKD1 were changed from ?Charcot-Marie-Tooth disease, axonal, type 2Q, OMIM:615025 to ?Charcot-Marie-Tooth disease, axonal, type 2Q, OMIM:615025; Charcot-Marie-Tooth disease axonal type 2Q, MONDO:0014012
Hereditary neuropathy or pain disorder v8.13 DHTKD1 Ida Ertmanska Publications for gene: DHTKD1 were set to 23141294; 28902413; 29661920; 34571524
Hereditary neuropathy or pain disorder v8.12 DHTKD1 Ida Ertmanska Tag Q3_26_demote_amber tag was added to gene: DHTKD1.
Hereditary neuropathy or pain disorder v8.12 DHTKD1 Ida Ertmanska commented on gene: DHTKD1: Comment on list classification: While there are several patients reported with CMT and DHTKD1 variants (including the recurrent p.Tyr485Ter variant), the variants are of uncertain significance, and evidence for the association is limited. A knock in Dhtkd1 Y486* mouse model showed some signs of neuropathy on histology, but the motor performance was normal in the mutant mice. As reviewed by James Polke, high frequency of LOF variants in gnomAD and lack of a phenotype in carriers of AAKAD can be seen as refuting evidence. Hence, this gene should be downgraded from Green to Amber at the next GMS update.
Hereditary neuropathy or pain disorder v8.12 DHTKD1 Ida Ertmanska edited their review of gene: DHTKD1: Changed publications to: 32169121, 35052424, 37880984, 41169655
Hereditary neuropathy or pain disorder v8.12 DHTKD1 Ida Ertmanska changed review comment from: PMID: 41169655 Başdemirci et al., 2025
Cohort of 58 patients with suspected CMT. Method: MLPA + NGS.
Patient 12 = female, positive family history (but segregation study could not be performed), consanguinity noted; DHTKD1 c.1604G>T (G535V) variant detected - labelled VUS (PP3, PM2, BP1). 51 hets reported in gnomAD v4.1.1.

PMID: 37880984 Menon et al., 2024
Report of a 72yo man who presented with a 2 years progressive history of respiratory and neck muscle weakness without significant bulbar and limb involvement - described as ALS-like. Clinical and electrophysiological examination revealed lower motor neuron involvement with widespread chronic denervation and reinnervation. Clinical WES revealed a heterozygous variant in exon 8 of DHTKD1: p.Tyr485Ter.

PMID: 35052424 Osmanovic et al., 2021
Two independent European ALS cohorts (n = 643 cases). 10 sporadic cases of 225 (4.4%) predominantly sporadic patients of cohort 1, and 12 familial ALS patients of 418 (2.9%) ALS families of cohort 2 harbored 14 different rare heterozygous DHTKD1 variants.

Case reports where heterozygous DHTKD1 variants are reported as causal, but not specified in detail:
https://doi.org/10.1212/WNL.94.15_supplement.186 (Neurology), Kumar 2020 - Case report of a 15yo Indian male with CMT2 diagnosis (NCS and EMG consistent with CMT). He harboured a DHTKD1 variant in exon 13.

Lee C and Jerath NU. Case Study of a Rare Pathogenic DHTKD1 Mutation Associated with CMT2Q. ICARE. 2024;3(3):22-24. - 68yo female with CMT2Q. Abnormal gait and clumsiness reported since her 50s. DHTKD1 variant not exactly specified but implied to be the same as in PMID:23141294 (p.Tyr485Ter).

https://doi.org/10.4103/nsn.nsn_91_25 Beton et al. 2026 - case report of a 36-year-old male with a longstanding history of gait disturbances, presented with bilateral scapular winging, proximal upper limb weakness, pes cavus, and steppage gait. Genetic testing identified a heterozygous pathogenic variant in the DHTKD1 gene, consistent with CMT2Q (variant not specified).; to: PMID: 41169655 Başdemirci et al., 2025
Cohort of 58 patients with suspected CMT. Method: MLPA + NGS.
Patient 12 = female, positive family history (but segregation study could not be performed), consanguinity noted; DHTKD1 c.1604G>T (G535V) variant detected - labelled VUS (PP3, PM2, BP1). 51 hets reported in gnomAD v4.1.1.

PMID: 37880984 Menon et al., 2024
Report of a 72yo man who presented with a 2 years progressive history of respiratory and neck muscle weakness without significant bulbar and limb involvement - described as ALS-like. Clinical and electrophysiological examination revealed lower motor neuron involvement with widespread chronic denervation and reinnervation. Clinical WES revealed a heterozygous variant in exon 8 of DHTKD1: p.Tyr485Ter.

PMID: 35052424 Osmanovic et al., 2021
Two independent European ALS cohorts (n = 643 cases). 10 sporadic cases of 225 (4.4%) predominantly sporadic patients of cohort 1, and 12 familial ALS patients of 418 (2.9%) ALS families of cohort 2 harbored 14 different rare heterozygous DHTKD1 variants.

PMID: 32169121 Luan et al. 2020 - Knock-in mouse model Dhtkd1 Y486* - partially recapitulated the clinical phenotypes of CMT2Q patients. Dhtkd1 expression level in sciatic nerve of knock-in mice was significantly lower than in wild-type mice; histopathological phenotype was reminiscent of a peripheral neuropathy (reduced large axon diameter and abnormal myelination in peripheral nerves); mice displayed clear sensory defects, while no abnormalities in the motor performance were observed; also observed accumulation of mitochondria and an elevated energy metabolic state.

Case reports where heterozygous DHTKD1 variants are reported as causal, but not specified in detail:
https://doi.org/10.1212/WNL.94.15_supplement.186 (Neurology), Kumar 2020 - Case report of a 15yo Indian male with CMT2 diagnosis (NCS and EMG consistent with CMT). He harboured a DHTKD1 variant in exon 13.

Lee C and Jerath NU. Case Study of a Rare Pathogenic DHTKD1 Mutation Associated with CMT2Q. ICARE. 2024;3(3):22-24. - 68yo female with CMT2Q. Abnormal gait and clumsiness reported since her 50s. DHTKD1 variant not exactly specified but implied to be the same as in PMID:23141294 (p.Tyr485Ter).

https://doi.org/10.4103/nsn.nsn_91_25 Beton et al. 2026 - case report of a 36-year-old male with a longstanding history of gait disturbances, presented with bilateral scapular winging, proximal upper limb weakness, pes cavus, and steppage gait. Genetic testing identified a heterozygous pathogenic variant in the DHTKD1 gene, consistent with CMT2Q (variant not specified).
Hereditary neuropathy or pain disorder v8.12 DHTKD1 Ida Ertmanska changed review comment from: PMID: 41169655 Başdemirci et al., 2025
Cohort of 58 patients with suspected CMT. Method: MLPA + NGS.
Patient 12 = female, positive family history (but segregation study could not be performed), consanguinity noted; DHTKD1 c.1604G>T (G535V) variant detected - labelled VUS (PP3, PM2, BP1). 51 hets reported in gnomAD v4.1.1.

PMID: 37880984 Menon et al., 2024
Report of a 72yo man who presented with a 2 years progressive history of respiratory and neck muscle weakness without significant bulbar and limb involvement - described as ALS-like. Clinical and electrophysiological examination revealed lower motor neuron involvement with widespread chronic denervation and reinnervation. Clinical WES revealed a heterozygous variant in exon 8 of DHTKD1: p.Tyr485Ter.

PMID: 35052424 Osmanovic et al., 2021
Two independent European ALS cohorts (n = 643 cases). 10 sporadic cases of 225 (4.4%) predominantly sporadic patients of cohort 1, and 12 familial ALS patients of 418 (2.9%) ALS families of cohort 2 harbored 14 different rare heterozygous DHTKD1 variants.

Case reports where heterozygous DHTKD1 variants are reported as causal, but not specified in detail:
https://doi.org/10.1212/WNL.94.15_supplement.186 (Neurology), Kumar 2020 - Case report of a 15yo Indian male with CMT2 diagnosis (NCS and EMG consistent with CMT). He harboured a DHTKD1 variant in exon 13.
Lee C and Jerath NU. Case Study of a Rare Pathogenic DHTKD1 Mutation Associated with CMT2Q. ICARE. 2024;3(3):22-24. - 68yo female with CMT2Q. Abnormal gait and clumsiness reported since her 50s. DHTKD1 variant not exactly specified but implied to be the same as in PMID:23141294 (p.Tyr485Ter).; to: PMID: 41169655 Başdemirci et al., 2025
Cohort of 58 patients with suspected CMT. Method: MLPA + NGS.
Patient 12 = female, positive family history (but segregation study could not be performed), consanguinity noted; DHTKD1 c.1604G>T (G535V) variant detected - labelled VUS (PP3, PM2, BP1). 51 hets reported in gnomAD v4.1.1.

PMID: 37880984 Menon et al., 2024
Report of a 72yo man who presented with a 2 years progressive history of respiratory and neck muscle weakness without significant bulbar and limb involvement - described as ALS-like. Clinical and electrophysiological examination revealed lower motor neuron involvement with widespread chronic denervation and reinnervation. Clinical WES revealed a heterozygous variant in exon 8 of DHTKD1: p.Tyr485Ter.

PMID: 35052424 Osmanovic et al., 2021
Two independent European ALS cohorts (n = 643 cases). 10 sporadic cases of 225 (4.4%) predominantly sporadic patients of cohort 1, and 12 familial ALS patients of 418 (2.9%) ALS families of cohort 2 harbored 14 different rare heterozygous DHTKD1 variants.

Case reports where heterozygous DHTKD1 variants are reported as causal, but not specified in detail:
https://doi.org/10.1212/WNL.94.15_supplement.186 (Neurology), Kumar 2020 - Case report of a 15yo Indian male with CMT2 diagnosis (NCS and EMG consistent with CMT). He harboured a DHTKD1 variant in exon 13.

Lee C and Jerath NU. Case Study of a Rare Pathogenic DHTKD1 Mutation Associated with CMT2Q. ICARE. 2024;3(3):22-24. - 68yo female with CMT2Q. Abnormal gait and clumsiness reported since her 50s. DHTKD1 variant not exactly specified but implied to be the same as in PMID:23141294 (p.Tyr485Ter).

https://doi.org/10.4103/nsn.nsn_91_25 Beton et al. 2026 - case report of a 36-year-old male with a longstanding history of gait disturbances, presented with bilateral scapular winging, proximal upper limb weakness, pes cavus, and steppage gait. Genetic testing identified a heterozygous pathogenic variant in the DHTKD1 gene, consistent with CMT2Q (variant not specified).
Hereditary neuropathy or pain disorder v8.12 DHTKD1 Ida Ertmanska changed review comment from: PMID: 41169655 Başdemirci et al., 2025
Cohort of 58 patients with suspected CMT. Method: MLPA + NGS.
Patient 12 = female, positive family history (but segregation study could not be performed), consanguinity noted; DHTKD1 c.1604G>T (G535V) variant detected - labelled VUS (PP3, PM2, BP1). 51 hets reported in gnomAD v4.1.1.

PMID: 37880984 Menon et al., 2024
Report of a 72yo man who presented with a 2 years progressive history of respiratory and neck muscle weakness without significant bulbar and limb involvement - described as ALS-like. Clinical and electrophysiological examination revealed lower motor neuron involvement with widespread chronic denervation and reinnervation. Clinical WES revealed a heterozygous variant in exon 8 of DHTKD1: p.Tyr485Ter.

PMID: 35052424 Osmanovic et al., 2021
Two independent European ALS cohorts (n = 643 cases). 10 sporadic cases of 225 (4.4%) predominantly sporadic patients of cohort 1, and 12 familial ALS patients of 418 (2.9%) ALS families of cohort 2 harbored 14 different rare heterozygous DHTKD1 variants.; to: PMID: 41169655 Başdemirci et al., 2025
Cohort of 58 patients with suspected CMT. Method: MLPA + NGS.
Patient 12 = female, positive family history (but segregation study could not be performed), consanguinity noted; DHTKD1 c.1604G>T (G535V) variant detected - labelled VUS (PP3, PM2, BP1). 51 hets reported in gnomAD v4.1.1.

PMID: 37880984 Menon et al., 2024
Report of a 72yo man who presented with a 2 years progressive history of respiratory and neck muscle weakness without significant bulbar and limb involvement - described as ALS-like. Clinical and electrophysiological examination revealed lower motor neuron involvement with widespread chronic denervation and reinnervation. Clinical WES revealed a heterozygous variant in exon 8 of DHTKD1: p.Tyr485Ter.

PMID: 35052424 Osmanovic et al., 2021
Two independent European ALS cohorts (n = 643 cases). 10 sporadic cases of 225 (4.4%) predominantly sporadic patients of cohort 1, and 12 familial ALS patients of 418 (2.9%) ALS families of cohort 2 harbored 14 different rare heterozygous DHTKD1 variants.

Case reports where heterozygous DHTKD1 variants are reported as causal, but not specified in detail:
https://doi.org/10.1212/WNL.94.15_supplement.186 (Neurology), Kumar 2020 - Case report of a 15yo Indian male with CMT2 diagnosis (NCS and EMG consistent with CMT). He harboured a DHTKD1 variant in exon 13.
Lee C and Jerath NU. Case Study of a Rare Pathogenic DHTKD1 Mutation Associated with CMT2Q. ICARE. 2024;3(3):22-24. - 68yo female with CMT2Q. Abnormal gait and clumsiness reported since her 50s. DHTKD1 variant not exactly specified but implied to be the same as in PMID:23141294 (p.Tyr485Ter).
Hereditary neuropathy or pain disorder v8.12 DHTKD1 Ida Ertmanska changed review comment from: PMID: 41169655 Başdemirci et al., 2025
Cohort of 58 patients with suspected CMT. Method: MLPA + NGS.
Patient 12 = female, positive family history (but segregation study could not be performed), consanguinity noted; DHTKD1 c.1604G>T (G535V) variant detected - labelled VUS (PP3, PM2, BP1). 51 hets reported in gnomAD v4.1.1.

PMID: 37880984 Menon et al., 2024
Report of a 72yo man who presented with a 2 years progressive history of respiratory and neck muscle weakness without significant bulbar and limb involvement - described as ALS-like. Clinical and electrophysiological examination revealed lower motor neuron involvement with widespread chronic denervation and reinnervation. Clinical WES revealed a heterozygous variant in exon 8 of DHTKD1: c.1445T>C, p.Tyr485Ter.

PMID: 35052424 Osmanovic et al., 2021
Two independent European ALS cohorts (n = 643 cases). 10 sporadic cases of 225 (4.4%) predominantly sporadic patients of cohort 1, and 12 familial ALS patients of 418 (2.9%) ALS families of cohort 2 harbored 14 different rare heterozygous DHTKD1 variants.; to: PMID: 41169655 Başdemirci et al., 2025
Cohort of 58 patients with suspected CMT. Method: MLPA + NGS.
Patient 12 = female, positive family history (but segregation study could not be performed), consanguinity noted; DHTKD1 c.1604G>T (G535V) variant detected - labelled VUS (PP3, PM2, BP1). 51 hets reported in gnomAD v4.1.1.

PMID: 37880984 Menon et al., 2024
Report of a 72yo man who presented with a 2 years progressive history of respiratory and neck muscle weakness without significant bulbar and limb involvement - described as ALS-like. Clinical and electrophysiological examination revealed lower motor neuron involvement with widespread chronic denervation and reinnervation. Clinical WES revealed a heterozygous variant in exon 8 of DHTKD1: p.Tyr485Ter.

PMID: 35052424 Osmanovic et al., 2021
Two independent European ALS cohorts (n = 643 cases). 10 sporadic cases of 225 (4.4%) predominantly sporadic patients of cohort 1, and 12 familial ALS patients of 418 (2.9%) ALS families of cohort 2 harbored 14 different rare heterozygous DHTKD1 variants.
Hereditary neuropathy or pain disorder v8.12 DHTKD1 Ida Ertmanska reviewed gene: DHTKD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35052424, 37880984, 41169655; Phenotypes: ?Charcot-Marie-Tooth disease, axonal, type 2Q, OMIM:615025, Charcot-Marie-Tooth disease axonal type 2Q, MONDO:0014012; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v8.4 DHTKD1 James Polke reviewed gene: DHTKD1: Rating: RED; Mode of pathogenicity: None; Publications: 34571524, 29661920, 28902413; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy or pain disorder v5.19 DHTKD1 Alexander Rossor commented on gene: DHTKD1: I think this gene should be removed from the panel. The original chinese family reported a lof het allele. LOF is not constrained in DHTKD!, more so recessive LOF variants in DHTKD1 cause Alpha-aminoadipic and alpha-ketoadipic aciduria and these patients do not have a peripheral neuropathy
Hereditary neuropathy or pain disorder v4.4 DHTKD1 Arina Puzriakova Tag Q3_23_promote_green was removed from gene: DHTKD1.
Hereditary neuropathy or pain disorder v4.3 DHTKD1 Arina Puzriakova reviewed gene: DHTKD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v4.2 DHTKD1 Arina Puzriakova Source Expert Review Green was added to DHTKD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v3.52 DHTKD1 Achchuthan Shanmugasundram Classified gene: DHTKD1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v3.52 DHTKD1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to green rating in the next GMS review.
Hereditary neuropathy or pain disorder v3.52 DHTKD1 Achchuthan Shanmugasundram Gene: dhtkd1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v3.51 DHTKD1 Achchuthan Shanmugasundram Phenotypes for gene: DHTKD1 were changed from Charcot Marie Tooth disease, axonal, type 2Q, 615025; 2 aminoadipic 2 oxoadipic aciduria, 204750 to ?Charcot-Marie-Tooth disease, axonal, type 2Q, OMIM:615025
Hereditary neuropathy or pain disorder v3.50 DHTKD1 Achchuthan Shanmugasundram Publications for gene: DHTKD1 were set to
Hereditary neuropathy or pain disorder v3.49 DHTKD1 Achchuthan Shanmugasundram Mode of inheritance for gene: DHTKD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v3.48 DHTKD1 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: DHTKD1.
Hereditary neuropathy or pain disorder v3.48 DHTKD1 Achchuthan Shanmugasundram reviewed gene: DHTKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23141294, 28902413, 29661920, 34571524; Phenotypes: ?Charcot-Marie-Tooth disease, axonal, type 2Q, OMIM:615025; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v1.4 DHTKD1 Zornitza Stark reviewed gene: DHTKD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23141294, 29661920, 28902413; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2Q, MIM#615025; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v0.1 DHTKD1 Ellen McDonagh gene: DHTKD1 was added
gene: DHTKD1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: DHTKD1 was set to
Phenotypes for gene: DHTKD1 were set to Charcot Marie Tooth disease, axonal, type 2Q, 615025; 2 aminoadipic 2 oxoadipic aciduria, 204750