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Hereditary ataxia v1.292 CACNA1A_CAG Arina Puzriakova Classified STR: CACNA1A_CAG as Green List (high evidence)
Hereditary ataxia v1.292 CACNA1A_CAG Arina Puzriakova Str: cacna1a_cag has been classified as Green List (High Evidence).
Brain channelopathy v1.75 CACNA1A_CAG Arina Puzriakova Classified STR: CACNA1A_CAG as Green List (high evidence)
Brain channelopathy v1.75 CACNA1A_CAG Arina Puzriakova Str: cacna1a_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.101 C9orf72_GGGGCC Arina Puzriakova Classified STR: C9orf72_GGGGCC as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.101 C9orf72_GGGGCC Arina Puzriakova Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.72 C9orf72_GGGGCC Arina Puzriakova Classified STR: C9orf72_GGGGCC as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.72 C9orf72_GGGGCC Arina Puzriakova Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
Amyotrophic lateral sclerosis/motor neuron disease v1.55 C9orf72_GGGGCC Arina Puzriakova Classified STR: C9orf72_GGGGCC as Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.55 C9orf72_GGGGCC Arina Puzriakova Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.284 ATXN7_CAG Arina Puzriakova Classified STR: ATXN7_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.284 ATXN7_CAG Arina Puzriakova Str: atxn7_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.291 ATXN7_CAG Arina Puzriakova Classified STR: ATXN7_CAG as Green List (high evidence)
Hereditary ataxia v1.291 ATXN7_CAG Arina Puzriakova Str: atxn7_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.100 ATXN3_CAG Arina Puzriakova Classified STR: ATXN3_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.100 ATXN3_CAG Arina Puzriakova Str: atxn3_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.283 ATXN3_CAG Arina Puzriakova Classified STR: ATXN3_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.283 ATXN3_CAG Arina Puzriakova Str: atxn3_cag has been classified as Green List (High Evidence).
Hereditary neuropathy v1.440 ATXN3_CAG Arina Puzriakova Classified STR: ATXN3_CAG as Green List (high evidence)
Hereditary neuropathy v1.440 ATXN3_CAG Arina Puzriakova Str: atxn3_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.290 ATXN3_CAG Arina Puzriakova Classified STR: ATXN3_CAG as Green List (high evidence)
Hereditary ataxia v1.290 ATXN3_CAG Arina Puzriakova Str: atxn3_cag has been classified as Green List (High Evidence).
Early onset dystonia v1.110 ATXN3_CAG Arina Puzriakova Classified STR: ATXN3_CAG as Green List (high evidence)
Early onset dystonia v1.110 ATXN3_CAG Arina Puzriakova Str: atxn3_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.99 ATXN2_CAG Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.99 ATXN2_CAG Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.282 ATXN2_CAG Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.282 ATXN2_CAG Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
Hereditary neuropathy v1.439 ATXN2_CAG Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
Hereditary neuropathy v1.439 ATXN2_CAG Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.289 ATXN2_CAG Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
Hereditary ataxia v1.289 ATXN2_CAG Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
Early onset dystonia v1.109 ATXN2_CAG Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
Early onset dystonia v1.109 ATXN2_CAG Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.71 ATXN2_CAG Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.71 ATXN2_CAG Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.281 ATXN10_ATTCT Arina Puzriakova Classified STR: ATXN10_ATTCT as Green List (high evidence)
Hereditary spastic paraplegia v1.281 ATXN10_ATTCT Arina Puzriakova Str: atxn10_attct has been classified as Green List (High Evidence).
Hereditary neuropathy v1.438 ATXN10_ATTCT Arina Puzriakova Classified STR: ATXN10_ATTCT as Green List (high evidence)
Hereditary neuropathy v1.438 ATXN10_ATTCT Arina Puzriakova Str: atxn10_attct has been classified as Green List (High Evidence).
Hereditary ataxia v1.288 ATXN10_ATTCT Arina Puzriakova Classified STR: ATXN10_ATTCT as Green List (high evidence)
Hereditary ataxia v1.288 ATXN10_ATTCT Arina Puzriakova Str: atxn10_attct has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.70 ATXN10_ATTCT Arina Puzriakova Classified STR: ATXN10_ATTCT as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.70 ATXN10_ATTCT Arina Puzriakova Str: atxn10_attct has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.98 ATXN1_CAG Arina Puzriakova Classified STR: ATXN1_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.98 ATXN1_CAG Arina Puzriakova Str: atxn1_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.280 ATXN1_CAG Arina Puzriakova Classified STR: ATXN1_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.280 ATXN1_CAG Arina Puzriakova Str: atxn1_cag has been classified as Green List (High Evidence).
Hereditary neuropathy v1.437 ATXN1_CAG Arina Puzriakova Classified STR: ATXN1_CAG as Green List (high evidence)
Hereditary neuropathy v1.437 ATXN1_CAG Arina Puzriakova Str: atxn1_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.287 ATXN1_CAG Arina Puzriakova Classified STR: ATXN1_CAG as Green List (high evidence)
Hereditary ataxia v1.287 ATXN1_CAG Arina Puzriakova Str: atxn1_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.69 ATXN1_CAG Arina Puzriakova Classified STR: ATXN1_CAG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.69 ATXN1_CAG Arina Puzriakova Str: atxn1_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.97 ATN1_CAG Arina Puzriakova Classified STR: ATN1_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.97 ATN1_CAG Arina Puzriakova Str: atn1_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.286 ATN1_CAG Arina Puzriakova Classified STR: ATN1_CAG as Green List (high evidence)
Hereditary ataxia v1.286 ATN1_CAG Arina Puzriakova Str: atn1_cag has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v2.496 ATN1_CAG Arina Puzriakova Classified STR: ATN1_CAG as Green List (high evidence)
Early onset or syndromic epilepsy v2.496 ATN1_CAG Arina Puzriakova Str: atn1_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.68 ATN1_CAG Arina Puzriakova Classified STR: ATN1_CAG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.68 ATN1_CAG Arina Puzriakova Str: atn1_cag has been classified as Green List (High Evidence).
Brain channelopathy v1.74 ATN1_CAG Arina Puzriakova Classified STR: ATN1_CAG as Green List (high evidence)
Brain channelopathy v1.74 ATN1_CAG Arina Puzriakova Str: atn1_cag has been classified as Green List (High Evidence).
Distal myopathies v1.45 AR_CAG Arina Puzriakova Classified STR: AR_CAG as Green List (high evidence)
Distal myopathies v1.45 AR_CAG Arina Puzriakova Str: ar_cag has been classified as Green List (High Evidence).
Congenital myopathy v2.78 AR_CAG Arina Puzriakova Classified STR: AR_CAG as Green List (high evidence)
Congenital myopathy v2.78 AR_CAG Arina Puzriakova Str: ar_cag has been classified as Green List (High Evidence).
Amyotrophic lateral sclerosis/motor neuron disease v1.54 AR_CAG Arina Puzriakova Classified STR: AR_CAG as Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.54 AR_CAG Arina Puzriakova Str: ar_cag has been classified as Green List (High Evidence).
Neurodegenerative disorders, adult onset v2.264 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Source Expert Review Removed was added to STR: HTT_CAG.
Rating Changed from Green List (high evidence) to No List (delete)
Structural basal ganglia disorders v1.28 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Source NHS GMS was added to STR: HTT_CAG.
Parkinson Disease and Complex Parkinsonism v1.94 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Source NHS GMS was added to STR: HTT_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary spastic paraplegia, childhood onset v2.126 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Source NHS GMS was added to STR: HTT_CAG.
Hereditary spastic paraplegia, adult onset v1.91 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Hereditary spastic paraplegia v1.277 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Source NHS GMS was added to STR: HTT_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia, adult onset v2.145 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Hereditary ataxia v1.283 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Source NHS GMS was added to STR: HTT_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Source NHS GMS was added to STR: HTT_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Brain channelopathy v1.71 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Source NHS GMS was added to STR: HTT_CAG.
Ataxia and cerebellar anomalies - childhood onset v2.284 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Source NHS GMS was added to STR: HTT_CAG.
Dystonia, chorea or related movement disorder, adult onset v1.162 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Paroxysmal central nervous system disorders v1.38 TBP_CAG Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG.
Neurodegenerative disorders, adult onset v2.264 TBP_CAG Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG.
Parkinson Disease and Complex Parkinsonism v1.94 TBP_CAG Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary spastic paraplegia, childhood onset v2.126 TBP_CAG Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG.
Hereditary spastic paraplegia v1.277 TBP_CAG Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia v1.283 TBP_CAG Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 TBP_CAG Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Dystonia, chorea or related movement disorder, childhood onset v1.213 TBP_CAG Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG.
Brain channelopathy v1.71 TBP_CAG Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - childhood onset v2.284 TBP_CAG Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG.
Neurodegenerative disorders, adult onset v2.264 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Parkinson Disease and Complex Parkinsonism v1.94 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Source NHS GMS was added to STR: PPP2R2B_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1515 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Source NHS GMS was added to STR: PPP2R2B_CAG.
Hereditary spastic paraplegia, childhood onset v2.126 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Source NHS GMS was added to STR: PPP2R2B_CAG.
Hereditary spastic paraplegia, adult onset v1.91 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Hereditary spastic paraplegia v1.277 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Source NHS GMS was added to STR: PPP2R2B_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary neuropathy v1.434 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Source NHS GMS was added to STR: PPP2R2B_CAG.
Hereditary ataxia, adult onset v2.145 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Hereditary ataxia v1.283 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Source NHS GMS was added to STR: PPP2R2B_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - childhood onset v2.284 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Source NHS GMS was added to STR: PPP2R2B_CAG.
Dystonia, chorea or related movement disorder, adult onset v1.162 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Hereditary neuropathy v1.434 NOP56_GGCCTG Arina Puzriakova Source NHS GMS was added to STR: NOP56_GGCCTG.
Hereditary ataxia v1.283 NOP56_GGCCTG Arina Puzriakova Source NHS GMS was added to STR: NOP56_GGCCTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 NOP56_GGCCTG Arina Puzriakova Source NHS GMS was added to STR: NOP56_GGCCTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - childhood onset v2.284 NOP56_GGCCTG Arina Puzriakova Source NHS GMS was added to STR: NOP56_GGCCTG.
Amyotrophic lateral sclerosis/motor neuron disease v1.51 NOP56_GGCCTG Arina Puzriakova Source NHS GMS was added to STR: NOP56_GGCCTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Neurodegenerative disorders, adult onset v2.264 JPH3_CTG Arina Puzriakova Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40.
Parkinson Disease and Complex Parkinsonism v1.94 JPH3_CTG Arina Puzriakova Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40.
Source NHS GMS was added to STR: JPH3_CTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dystonia v1.106 JPH3_CTG Arina Puzriakova Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40.
Source NHS GMS was added to STR: JPH3_CTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 JPH3_CTG Arina Puzriakova Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40.
Source NHS GMS was added to STR: JPH3_CTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Dystonia, chorea or related movement disorder, adult onset v1.162 JPH3_CTG Arina Puzriakova Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40.
Neurodegenerative disorders, adult onset v2.264 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Mitochondrial disorders v2.89 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Intellectual disability v3.1515 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Hypertrophic cardiomyopathy v2.36 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Hereditary spastic paraplegia, childhood onset v2.126 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Hereditary spastic paraplegia v1.277 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary neuropathy v1.434 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia v1.283 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Likely inborn error of metabolism v2.226 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Dystonia, chorea or related movement disorder, childhood onset v1.213 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Ataxia and cerebellar anomalies - childhood onset v2.284 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Primary ovarian insufficiency v1.65 FMR1_CGG Arina Puzriakova Source NHS GMS was added to STR: FMR1_CGG.
Intellectual disability v3.1515 FMR1_CGG Arina Puzriakova Source NHS GMS was added to STR: FMR1_CGG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary neuropathy v1.434 FMR1_CGG Arina Puzriakova Source NHS GMS was added to STR: FMR1_CGG.
Hereditary ataxia, adult onset v2.145 FMR1_CGG Arina Puzriakova Source NHS GMS was added to STR: FMR1_CGG.
Hereditary ataxia v1.283 FMR1_CGG Arina Puzriakova Source NHS GMS was added to STR: FMR1_CGG.
Skeletal muscle channelopathy v1.37 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Paroxysmal central nervous system disorders v1.38 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Skeletal Muscle Channelopathies v1.42 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Mitochondrial disorders v2.89 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric motor neuronopathies v1.74 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Intellectual disability v3.1515 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Gastrointestinal neuromuscular disorders v1.19 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source Expert Review Red was added to STR: DMPK_CTG.
Source NHS GMS was added to STR: DMPK_CTG.
Fetal hydrops v1.48 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source Expert Review Red was added to STR: DMPK_CTG.
Source NHS GMS was added to STR: DMPK_CTG.
Fetal anomalies v1.840 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Likely inborn error of metabolism v2.226 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
DDG2P v2.63 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Congenital myopathy v2.75 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Congenital muscular dystrophy v2.24 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paroxysmal central nervous system disorders v1.38 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.
Neurodegenerative disorders, adult onset v2.264 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.
Intellectual disability v3.1515 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.
Hereditary ataxia, adult onset v2.145 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Hereditary ataxia v1.283 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset or syndromic epilepsy v2.493 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Dystonia, chorea or related movement disorder, childhood onset v1.213 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.
Brain channelopathy v1.71 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - childhood onset v2.284 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.
Dystonia, chorea or related movement disorder, adult onset v1.162 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Skeletal muscle channelopathy v1.37 CNBP_CCTG Arina Puzriakova Normal Number of Repeats for CNBP_CCTG was changed from 26 to 27.
Source NHS GMS was added to STR: CNBP_CCTG.
Skeletal Muscle Channelopathies v1.42 CNBP_CCTG Arina Puzriakova Normal Number of Repeats for CNBP_CCTG was changed from 26 to 27.
Source Expert Review Red was added to STR: CNBP_CCTG.
Source NHS GMS was added to STR: CNBP_CCTG.
Fetal anomalies v1.840 CNBP_CCTG Arina Puzriakova Normal Number of Repeats for CNBP_CCTG was changed from 26 to 27.
Source NHS GMS was added to STR: CNBP_CCTG.
Distal myopathies v1.42 CNBP_CCTG Arina Puzriakova Normal Number of Repeats for CNBP_CCTG was changed from 26 to 27.
Source Expert Review Red was added to STR: CNBP_CCTG.
Source NHS GMS was added to STR: CNBP_CCTG.
Paroxysmal central nervous system disorders v1.38 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Source NHS GMS was added to STR: CACNA1A_CAG.
Neurodegenerative disorders, adult onset v2.264 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Source NHS GMS was added to STR: CACNA1A_CAG.
Hereditary spastic paraplegia, childhood onset v2.126 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Source NHS GMS was added to STR: CACNA1A_CAG.
Hereditary spastic paraplegia, adult onset v1.91 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Hereditary spastic paraplegia v1.277 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Source NHS GMS was added to STR: CACNA1A_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia, adult onset v2.145 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Hereditary ataxia v1.283 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Source NHS GMS was added to STR: CACNA1A_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Brain channelopathy v1.71 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Source NHS GMS was added to STR: CACNA1A_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - childhood onset v2.284 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Source NHS GMS was added to STR: CACNA1A_CAG.
Dystonia, chorea or related movement disorder, adult onset v1.162 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Neurodegenerative disorders, adult onset v2.264 C9orf72_GGGGCC Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24.
Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200.
Parkinson Disease and Complex Parkinsonism v1.94 C9orf72_GGGGCC Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24.
Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200.
Source NHS GMS was added to STR: C9orf72_GGGGCC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1515 C9orf72_GGGGCC Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24.
Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200.
Source NHS GMS was added to STR: C9orf72_GGGGCC.
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 C9orf72_GGGGCC Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24.
Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200.
Source NHS GMS was added to STR: C9orf72_GGGGCC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Dystonia, chorea or related movement disorder, childhood onset v1.213 C9orf72_GGGGCC Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24.
Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200.
Amyotrophic lateral sclerosis/motor neuron disease v1.51 C9orf72_GGGGCC Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24.
Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200.
Source NHS GMS was added to STR: C9orf72_GGGGCC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Dystonia, chorea or related movement disorder, adult onset v1.162 C9orf72_GGGGCC Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24.
Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200.
Neurodegenerative disorders, adult onset v2.264 ATXN7_CAG Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.
Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Undiagnosed metabolic disorders v1.511 ATXN7_CAG Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.
Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Source NHS GMS was added to STR: ATXN7_CAG.
Intellectual disability v3.1515 ATXN7_CAG Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.
Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Source NHS GMS was added to STR: ATXN7_CAG.
Hereditary spastic paraplegia, childhood onset v2.126 ATXN7_CAG Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.
Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Source NHS GMS was added to STR: ATXN7_CAG.
Hereditary spastic paraplegia, adult onset v1.91 ATXN7_CAG Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.
Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Hereditary spastic paraplegia v1.277 ATXN7_CAG Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.
Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Source NHS GMS was added to STR: ATXN7_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary neuropathy v1.434 ATXN7_CAG Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.
Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Source NHS GMS was added to STR: ATXN7_CAG.
Hereditary ataxia, adult onset v2.145 ATXN7_CAG Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.
Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Hereditary ataxia v1.283 ATXN7_CAG Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.
Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Source NHS GMS was added to STR: ATXN7_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - childhood onset v2.284 ATXN7_CAG Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.
Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Source NHS GMS was added to STR: ATXN7_CAG.
Neurodegenerative disorders, adult onset v2.264 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Parkinson Disease and Complex Parkinsonism v1.94 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN3_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1515 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN3_CAG.
Hereditary spastic paraplegia, childhood onset v2.126 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN3_CAG.
Hereditary spastic paraplegia, adult onset v1.91 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Hereditary spastic paraplegia v1.277 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN3_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary neuropathy v1.434 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN3_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia, adult onset v2.145 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Hereditary ataxia v1.283 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN3_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dystonia v1.106 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN3_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - childhood onset v2.284 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN3_CAG.
Dystonia, chorea or related movement disorder, adult onset v1.162 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Neurodegenerative disorders, adult onset v2.264 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Parkinson Disease and Complex Parkinsonism v1.94 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Source NHS GMS was added to STR: ATXN2_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1515 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Source NHS GMS was added to STR: ATXN2_CAG.
Hereditary spastic paraplegia, childhood onset v2.126 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Source NHS GMS was added to STR: ATXN2_CAG.
Hereditary spastic paraplegia, adult onset v1.91 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Hereditary spastic paraplegia v1.277 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Source NHS GMS was added to STR: ATXN2_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary neuropathy v1.434 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Source NHS GMS was added to STR: ATXN2_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia, adult onset v2.145 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Hereditary ataxia v1.283 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Source NHS GMS was added to STR: ATXN2_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dystonia v1.106 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Source NHS GMS was added to STR: ATXN2_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Source NHS GMS was added to STR: ATXN2_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Dystonia, chorea or related movement disorder, childhood onset v1.213 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Source NHS GMS was added to STR: ATXN2_CAG.
Ataxia and cerebellar anomalies - childhood onset v2.284 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Source NHS GMS was added to STR: ATXN2_CAG.
Amyotrophic lateral sclerosis/motor neuron disease v1.51 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Source NHS GMS was added to STR: ATXN2_CAG.
Dystonia, chorea or related movement disorder, adult onset v1.162 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Thoracic dystrophies v1.16 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source NHS GMS was added to STR: ATXN10_ATTCT.
Skeletal dysplasia v2.187 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source NHS GMS was added to STR: ATXN10_ATTCT.
Neurodegenerative disorders, adult onset v2.264 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Intellectual disability v3.1515 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source NHS GMS was added to STR: ATXN10_ATTCT.
Hereditary spastic paraplegia, childhood onset v2.126 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source NHS GMS was added to STR: ATXN10_ATTCT.
Hereditary spastic paraplegia, adult onset v1.91 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Hereditary spastic paraplegia v1.277 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source NHS GMS was added to STR: ATXN10_ATTCT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary neuropathy v1.434 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source NHS GMS was added to STR: ATXN10_ATTCT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia, adult onset v2.145 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Hereditary ataxia v1.283 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source NHS GMS was added to STR: ATXN10_ATTCT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dystonia v1.106 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source NHS GMS was added to STR: ATXN10_ATTCT.
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source NHS GMS was added to STR: ATXN10_ATTCT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - childhood onset v2.284 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source NHS GMS was added to STR: ATXN10_ATTCT.
Neurodegenerative disorders, adult onset v2.264 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Parkinson Disease and Complex Parkinsonism v1.94 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1515 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN1_CAG.
Hereditary spastic paraplegia, childhood onset v2.126 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN1_CAG.
Hereditary spastic paraplegia, adult onset v1.91 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Hereditary spastic paraplegia v1.277 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary neuropathy v1.434 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia, adult onset v2.145 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Hereditary ataxia v1.283 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - childhood onset v2.284 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN1_CAG.
Dystonia, chorea or related movement disorder, adult onset v1.162 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Paroxysmal central nervous system disorders v1.38 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Source NHS GMS was added to STR: ATN1_CAG.
Neurodegenerative disorders, adult onset v2.264 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Parkinson Disease and Complex Parkinsonism v1.94 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Source NHS GMS was added to STR: ATN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia, adult onset v2.145 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Hereditary ataxia v1.283 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Source NHS GMS was added to STR: ATN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset or syndromic epilepsy v2.493 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Source NHS GMS was added to STR: ATN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Brain channelopathy v1.71 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Source NHS GMS was added to STR: ATN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - childhood onset v2.284 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Source NHS GMS was added to STR: ATN1_CAG.
Dystonia, chorea or related movement disorder, adult onset v1.162 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Neurodegenerative disorders, adult onset v2.264 AR_CAG Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35.
Paediatric motor neuronopathies v1.74 AR_CAG Arina Puzriakova GRCh37 position for AR_CAG was changed from - to 66765160-66765225.
Normal Number of Repeats for AR_CAG was changed from 34 to 35.
Source NHS GMS was added to STR: AR_CAG.
Hereditary neuropathy or pain disorder v1.84 AR_CAG Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35.
Source NHS GMS was added to STR: AR_CAG.
Hereditary neuropathy v1.434 AR_CAG Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35.
Source NHS GMS was added to STR: AR_CAG.
Distal myopathies v1.42 AR_CAG Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35.
Source NHS GMS was added to STR: AR_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Congenital myopathy v2.75 AR_CAG Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35.
Source NHS GMS was added to STR: AR_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.51 AR_CAG Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35.
Source NHS GMS was added to STR: AR_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Neurodegenerative disorders, adult onset v2.263 SORL1 Eleanor Williams Tag Q3_21_NHS_review was removed from gene: SORL1.
Neurodegenerative disorders, adult onset v2.263 FIG4 Eleanor Williams Tag Q3_21_NHS_review was removed from gene: FIG4.
Tag Q4_21_expert_review was removed from gene: FIG4.
Neurodegenerative disorders, adult onset v2.263 ERBB4 Eleanor Williams Tag Q2_21_rating was removed from gene: ERBB4.
Neurodegenerative disorders, adult onset v2.263 FIG4 Sarah Leigh commented on gene: FIG4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Neurodegenerative disorders, adult onset v2.263 ERBB4 Sarah Leigh commented on gene: ERBB4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Neurodegenerative disorders, adult onset v2.262 FIG4 Eleanor Williams Source Expert Review Red was added to FIG4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Neurodegenerative disorders, adult onset v2.262 ERBB4 Eleanor Williams Source Expert Review Green was added to ERBB4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.839 ISCA-46302-Gain Arina Puzriakova Tag for-review was removed from Region: ISCA-46302-Gain.
Differences in sex development v2.58 ISCA-46302-Gain Arina Puzriakova Tag for-review was removed from Region: ISCA-46302-Gain.
Differences in sex development v2.58 ISCA-46302-Gain Arina Puzriakova Classified Region: ISCA-46302-Gain as Green List (high evidence)
Differences in sex development v2.58 ISCA-46302-Gain Arina Puzriakova Region: isca-46302-gain has been classified as Green List (High Evidence).
Differences in sex development v2.57 ISCA-46302-Gain Arina Puzriakova commented on Region: ISCA-46302-Gain
Fetal anomalies v1.839 ISCA-46302-Gain Arina Puzriakova commented on Region: ISCA-46302-Gain
Fetal anomalies v1.839 ISCA-46302-Gain Arina Puzriakova Haploinsufficiency Score for ISCA-46302-Gain was changed from None to .
Source Expert Review Green was added to Region: ISCA-46302-Gain.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.96 NADSYN1 Arina Puzriakova Tag for-review was removed from gene: NADSYN1.
Paediatric disorders - additional genes v1.96 MYOCD Arina Puzriakova Tag for-review was removed from gene: MYOCD.
Paediatric disorders - additional genes v1.96 LRIG2 Arina Puzriakova Tag for-review was removed from gene: LRIG2.
Paediatric disorders - additional genes v1.96 ITGA8 Arina Puzriakova Tag for-review was removed from gene: ITGA8.
Paediatric disorders - additional genes v1.96 GREB1L Arina Puzriakova Tag for-review was removed from gene: GREB1L.
Paediatric disorders - additional genes v1.96 GATA3 Arina Puzriakova Tag for-review was removed from gene: GATA3.
Paediatric disorders - additional genes v1.96 CHRNA3 Arina Puzriakova Tag for-review was removed from gene: CHRNA3.
Paediatric disorders - additional genes v1.96 ANOS1 Arina Puzriakova Tag for-review was removed from gene: ANOS1.
Paediatric disorders - additional genes v1.96 AGT Arina Puzriakova Tag for-review was removed from gene: AGT.
Paediatric disorders - additional genes v1.96 AGTR1 Arina Puzriakova Tag for-review was removed from gene: AGTR1.
Paediatric disorders - additional genes v1.96 ACE Arina Puzriakova Tag for-review was removed from gene: ACE.
Paediatric disorders - additional genes v1.96 ACTG2 Arina Puzriakova Tag for-review was removed from gene: ACTG2.
Paediatric disorders - additional genes v1.96 TBX18 Arina Puzriakova Tag for-review was removed from gene: TBX18.
Paediatric disorders - additional genes v1.96 REN Arina Puzriakova Tag for-review was removed from gene: REN.
Paediatric disorders - additional genes v1.96 TSPYL1 Arina Puzriakova Tag for-review was removed from gene: TSPYL1.
Paediatric disorders - additional genes v1.96 STN1 Arina Puzriakova Tag for-review was removed from gene: STN1.
Paediatric disorders - additional genes v1.96 PIGQ Arina Puzriakova Tag for-review was removed from gene: PIGQ.
Paediatric disorders - additional genes v1.96 CDH2 Arina Puzriakova Tag for-review was removed from gene: CDH2.
Paediatric disorders - additional genes v1.96 RINT1 Arina Puzriakova Tag for-review was removed from gene: RINT1.
Paediatric disorders - additional genes v1.96 HYAL2 Arina Puzriakova Tag for-review was removed from gene: HYAL2.
Paediatric disorders - additional genes v1.96 NADSYN1 Sarah Leigh commented on gene: NADSYN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric disorders - additional genes v1.96 MYOCD Sarah Leigh commented on gene: MYOCD: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric disorders - additional genes v1.96 LRIG2 Sarah Leigh commented on gene: LRIG2
Paediatric disorders - additional genes v1.96 ITGA8 Sarah Leigh commented on gene: ITGA8
Paediatric disorders - additional genes v1.96 GREB1L Sarah Leigh commented on gene: GREB1L
Paediatric disorders - additional genes v1.96 GATA3 Sarah Leigh commented on gene: GATA3
Paediatric disorders - additional genes v1.96 CHRNA3 Sarah Leigh commented on gene: CHRNA3
Paediatric disorders - additional genes v1.96 ANOS1 Sarah Leigh commented on gene: ANOS1
Paediatric disorders - additional genes v1.96 AGTR1 Sarah Leigh commented on gene: AGTR1
Paediatric disorders - additional genes v1.96 AGT Sarah Leigh commented on gene: AGT
Paediatric disorders - additional genes v1.96 ACE Sarah Leigh commented on gene: ACE
Paediatric disorders - additional genes v1.96 ACTG2 Sarah Leigh commented on gene: ACTG2
Paediatric disorders - additional genes v1.96 TBX18 Sarah Leigh commented on gene: TBX18
Paediatric disorders - additional genes v1.96 REN Sarah Leigh commented on gene: REN
Paediatric disorders - additional genes v1.96 TSPYL1 Sarah Leigh commented on gene: TSPYL1
Paediatric disorders - additional genes v1.96 STN1 Sarah Leigh commented on gene: STN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric disorders - additional genes v1.96 PIGQ Sarah Leigh commented on gene: PIGQ: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric disorders - additional genes v1.96 CDH2 Sarah Leigh commented on gene: CDH2
Paediatric disorders - additional genes v1.96 RINT1 Sarah Leigh commented on gene: RINT1
Paediatric disorders - additional genes v1.96 HYAL2 Sarah Leigh commented on gene: HYAL2
Paediatric disorders - additional genes v1.95 NADSYN1 Arina Puzriakova Source Expert Review Green was added to NADSYN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 MYOCD Arina Puzriakova Source Expert Review Green was added to MYOCD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 LRIG2 Arina Puzriakova Source Expert Review Green was added to LRIG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 ITGA8 Arina Puzriakova Source Expert Review Green was added to ITGA8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 GREB1L Arina Puzriakova Source Expert Review Green was added to GREB1L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 GATA3 Arina Puzriakova Source Expert Review Green was added to GATA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 CHRNA3 Arina Puzriakova Source Expert Review Green was added to CHRNA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 ANOS1 Arina Puzriakova Source Expert Review Green was added to ANOS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 AGTR1 Arina Puzriakova Source Expert Review Green was added to AGTR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 AGT Arina Puzriakova Source Expert Review Green was added to AGT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 ACE Arina Puzriakova Source Expert Review Green was added to ACE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 ACTG2 Arina Puzriakova Source Expert Review Green was added to ACTG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 TBX18 Arina Puzriakova Source Expert Review Green was added to TBX18.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 REN Arina Puzriakova Source Expert Review Green was added to REN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 TSPYL1 Arina Puzriakova Source Expert Review Green was added to TSPYL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 STN1 Arina Puzriakova Source Expert Review Green was added to STN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 PIGQ Arina Puzriakova Source Expert Review Green was added to PIGQ.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 CDH2 Arina Puzriakova Source Expert Review Green was added to CDH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 RINT1 Arina Puzriakova Source Expert Review Green was added to RINT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 HYAL2 Arina Puzriakova Source Expert Review Green was added to HYAL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.293 CEP63 Eleanor Williams Tag Q2_21_expert_review was removed from gene: CEP63.
Severe microcephaly v2.293 YIPF5 Eleanor Williams Tag Q2_21_rating was removed from gene: YIPF5.
Severe microcephaly v2.293 WDR4 Eleanor Williams Tag Q2_21_rating was removed from gene: WDR4.
Severe microcephaly v2.293 WDR37 Eleanor Williams Tag Q2_21_rating was removed from gene: WDR37.
Severe microcephaly v2.293 WDR11 Eleanor Williams Tag Q4_21_rating was removed from gene: WDR11.
Severe microcephaly v2.293 VRK1 Eleanor Williams Tag Q3_21_rating was removed from gene: VRK1.
Severe microcephaly v2.293 UNC80 Eleanor Williams Tag Q2_21_rating was removed from gene: UNC80.
Severe microcephaly v2.293 UGP2 Eleanor Williams Tag Q2_21_rating was removed from gene: UGP2.
Severe microcephaly v2.293 TSEN54 Eleanor Williams Tag Q2_21_rating was removed from gene: TSEN54.
Severe microcephaly v2.293 TSEN15 Eleanor Williams Tag Q2_21_rating was removed from gene: TSEN15.
Severe microcephaly v2.293 TRIO Eleanor Williams Tag Q2_21_rating was removed from gene: TRIO.
Severe microcephaly v2.293 TRAPPC9 Eleanor Williams Tag Q2_21_rating was removed from gene: TRAPPC9.
Severe microcephaly v2.293 TRAPPC6B Eleanor Williams Tag Q2_21_rating was removed from gene: TRAPPC6B.
Severe microcephaly v2.293 TP53RK Eleanor Williams Tag Q2_21_rating was removed from gene: TP53RK.
Severe microcephaly v2.293 TNPO2 Eleanor Williams Tag Q3_21_rating was removed from gene: TNPO2.
Severe microcephaly v2.293 SMARCA5 Eleanor Williams Tag Q2_21_rating was removed from gene: SMARCA5.
Severe microcephaly v2.293 SLC1A4 Eleanor Williams Tag Q2_21_rating was removed from gene: SLC1A4.
Severe microcephaly v2.293 RAD51 Eleanor Williams Tag Q4_21_rating was removed from gene: RAD51.
Severe microcephaly v2.293 RAD50 Eleanor Williams Tag Q2_21_rating was removed from gene: RAD50.
Severe microcephaly v2.293 PUS7 Eleanor Williams Tag Q2_21_rating was removed from gene: PUS7.
Severe microcephaly v2.293 PUF60 Eleanor Williams Tag Q2_21_rating was removed from gene: PUF60.
Severe microcephaly v2.293 PTPN23 Eleanor Williams Tag Q2_21_rating was removed from gene: PTPN23.
Severe microcephaly v2.293 POGZ Eleanor Williams Tag Q2_21_rating was removed from gene: POGZ.
Severe microcephaly v2.293 PCDH12 Eleanor Williams Tag Q3_21_rating was removed from gene: PCDH12.
Severe microcephaly v2.293 OSGEP Eleanor Williams Tag Q3_21_rating was removed from gene: OSGEP.
Severe microcephaly v2.293 NUP107 Eleanor Williams Tag Q3_21_rating was removed from gene: NUP107.
Severe microcephaly v2.293 MINPP1 Eleanor Williams Tag Q2_21_rating was removed from gene: MINPP1.
Severe microcephaly v2.293 LAGE3 Eleanor Williams Tag Q3_21_rating was removed from gene: LAGE3.
Severe microcephaly v2.293 HPDL Eleanor Williams Tag Q2_21_rating was removed from gene: HPDL.
Severe microcephaly v2.293 HIST1H4C Eleanor Williams Tag Q3_21_rating was removed from gene: HIST1H4C.
Severe microcephaly v2.293 GTF2E2 Eleanor Williams Tag Q3_21_rating was removed from gene: GTF2E2.
Severe microcephaly v2.293 GPT2 Eleanor Williams Tag Q4_21_rating was removed from gene: GPT2.
Severe microcephaly v2.293 FOXG1 Eleanor Williams Tag Q2_21_rating was removed from gene: FOXG1.
Severe microcephaly v2.293 EIF5A Eleanor Williams Tag Q2_21_rating was removed from gene: EIF5A.
Severe microcephaly v2.293 EIF2S3 Eleanor Williams Tag Q3_21_rating was removed from gene: EIF2S3.
Severe microcephaly v2.293 DYNC1I2 Eleanor Williams Tag Q4_21_rating was removed from gene: DYNC1I2.
Severe microcephaly v2.293 DPM1 Eleanor Williams Tag Q2_21_rating was removed from gene: DPM1.
Severe microcephaly v2.293 DNA2 Eleanor Williams Tag Q2_21_rating was removed from gene: DNA2.
Severe microcephaly v2.293 CTU2 Eleanor Williams Tag Q2_21_rating was removed from gene: CTU2.
Severe microcephaly v2.293 CTCF Eleanor Williams Tag Q2_21_rating was removed from gene: CTCF.
Severe microcephaly v2.293 CSNK2A1 Eleanor Williams Tag Q2_21_rating was removed from gene: CSNK2A1.
Severe microcephaly v2.293 CHAMP1 Eleanor Williams Tag Q2_21_rating was removed from gene: CHAMP1.
Severe microcephaly v2.293 CEP63 Eleanor Williams Phenotypes for gene: CEP63 were changed from MCPH; primary microcephaly; ?Seckel syndrome 6, 614728; Microcephaly to MCPH; primary microcephaly; ?Seckel syndrome 6, OMIM:614728; Microcephaly
Severe microcephaly v2.292 CEP57 Eleanor Williams Tag Q2_21_rating was removed from gene: CEP57.
Severe microcephaly v2.292 CAMK2B Eleanor Williams Tag Q2_21_rating was removed from gene: CAMK2B.
Severe microcephaly v2.292 BUB1B Eleanor Williams Tag Q2_21_rating was removed from gene: BUB1B.
Severe microcephaly v2.292 BPTF Eleanor Williams Tag Q2_21_rating was removed from gene: BPTF.
Severe microcephaly v2.292 AARS Eleanor Williams Tag Q2_21_rating was removed from gene: AARS.
Severe microcephaly v2.292 YIPF5 Sarah Leigh commented on gene: YIPF5
Severe microcephaly v2.292 WDR4 Sarah Leigh commented on gene: WDR4
Severe microcephaly v2.292 WDR37 Sarah Leigh commented on gene: WDR37
Severe microcephaly v2.292 WDR11 Sarah Leigh commented on gene: WDR11
Severe microcephaly v2.292 VRK1 Sarah Leigh commented on gene: VRK1
Severe microcephaly v2.292 UNC80 Sarah Leigh commented on gene: UNC80
Severe microcephaly v2.292 UGP2 Sarah Leigh commented on gene: UGP2
Severe microcephaly v2.292 TSEN54 Sarah Leigh commented on gene: TSEN54
Severe microcephaly v2.292 TSEN15 Sarah Leigh commented on gene: TSEN15
Severe microcephaly v2.292 TRIO Sarah Leigh commented on gene: TRIO
Severe microcephaly v2.292 TRAPPC9 Sarah Leigh commented on gene: TRAPPC9
Severe microcephaly v2.292 TRAPPC6B Sarah Leigh commented on gene: TRAPPC6B
Severe microcephaly v2.292 TP53RK Sarah Leigh commented on gene: TP53RK
Severe microcephaly v2.292 TNPO2 Sarah Leigh commented on gene: TNPO2
Severe microcephaly v2.292 SMARCA5 Sarah Leigh commented on gene: SMARCA5
Severe microcephaly v2.292 SLC1A4 Sarah Leigh commented on gene: SLC1A4
Severe microcephaly v2.292 RAD51 Sarah Leigh commented on gene: RAD51
Severe microcephaly v2.292 RAD50 Sarah Leigh commented on gene: RAD50
Severe microcephaly v2.292 PUS7 Sarah Leigh commented on gene: PUS7
Severe microcephaly v2.292 PUF60 Sarah Leigh commented on gene: PUF60
Severe microcephaly v2.292 PTPN23 Sarah Leigh commented on gene: PTPN23
Severe microcephaly v2.292 POGZ Sarah Leigh commented on gene: POGZ
Severe microcephaly v2.292 PCDH12 Sarah Leigh commented on gene: PCDH12
Severe microcephaly v2.292 OSGEP Sarah Leigh commented on gene: OSGEP
Severe microcephaly v2.292 NUP107 Sarah Leigh commented on gene: NUP107
Severe microcephaly v2.292 MINPP1 Sarah Leigh commented on gene: MINPP1
Severe microcephaly v2.292 LAGE3 Sarah Leigh commented on gene: LAGE3
Severe microcephaly v2.292 HPDL Sarah Leigh commented on gene: HPDL
Severe microcephaly v2.292 HIST1H4C Sarah Leigh commented on gene: HIST1H4C
Severe microcephaly v2.292 GTF2E2 Sarah Leigh commented on gene: GTF2E2
Severe microcephaly v2.292 GPT2 Sarah Leigh commented on gene: GPT2
Severe microcephaly v2.292 FOXG1 Sarah Leigh commented on gene: FOXG1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Severe microcephaly v2.292 EIF5A Sarah Leigh commented on gene: EIF5A
Severe microcephaly v2.292 EIF2S3 Sarah Leigh commented on gene: EIF2S3
Severe microcephaly v2.292 DYNC1I2 Sarah Leigh commented on gene: DYNC1I2
Severe microcephaly v2.292 DPM1 Sarah Leigh commented on gene: DPM1
Severe microcephaly v2.292 DNA2 Sarah Leigh commented on gene: DNA2
Severe microcephaly v2.292 CTU2 Sarah Leigh commented on gene: CTU2
Severe microcephaly v2.292 CTCF Sarah Leigh commented on gene: CTCF
Severe microcephaly v2.292 CSNK2A1 Sarah Leigh commented on gene: CSNK2A1
Severe microcephaly v2.292 CHAMP1 Sarah Leigh commented on gene: CHAMP1
Severe microcephaly v2.292 CEP63 Sarah Leigh commented on gene: CEP63
Severe microcephaly v2.292 CEP57 Sarah Leigh commented on gene: CEP57
Severe microcephaly v2.292 CAMK2B Sarah Leigh commented on gene: CAMK2B
Severe microcephaly v2.292 BUB1B Sarah Leigh commented on gene: BUB1B
Severe microcephaly v2.292 BPTF Sarah Leigh commented on gene: BPTF
Severe microcephaly v2.292 AARS Sarah Leigh commented on gene: AARS
Severe microcephaly v2.291 YIPF5 Eleanor Williams Source Expert Review Green was added to YIPF5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 WDR4 Eleanor Williams Source Expert Review Green was added to WDR4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 WDR37 Eleanor Williams Source Expert Review Green was added to WDR37.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 WDR11 Eleanor Williams Source Expert Review Green was added to WDR11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 VRK1 Eleanor Williams Source Expert Review Green was added to VRK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 UNC80 Eleanor Williams Source Expert Review Green was added to UNC80.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 UGP2 Eleanor Williams Source Expert Review Green was added to UGP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 TSEN54 Eleanor Williams Source Expert Review Green was added to TSEN54.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 TSEN15 Eleanor Williams Source Expert Review Green was added to TSEN15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 TRIO Eleanor Williams Source Expert Review Green was added to TRIO.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 TRAPPC9 Eleanor Williams Source Expert Review Green was added to TRAPPC9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 TRAPPC6B Eleanor Williams Source Expert Review Green was added to TRAPPC6B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 TP53RK Eleanor Williams Source Expert Review Green was added to TP53RK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 TNPO2 Eleanor Williams Source Expert Review Green was added to TNPO2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 SMARCA5 Eleanor Williams Source Expert Review Green was added to SMARCA5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 SLC1A4 Eleanor Williams Source Expert Review Green was added to SLC1A4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 RAD51 Eleanor Williams Source Expert Review Green was added to RAD51.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 RAD50 Eleanor Williams Source Expert Review Green was added to RAD50.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 PUS7 Eleanor Williams Source Expert Review Green was added to PUS7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 PUF60 Eleanor Williams Source Expert Review Green was added to PUF60.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 PTPN23 Eleanor Williams Source Expert Review Green was added to PTPN23.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 POGZ Eleanor Williams Source Expert Review Green was added to POGZ.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 PCDH12 Eleanor Williams Source Expert Review Green was added to PCDH12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 OSGEP Eleanor Williams Source Expert Review Green was added to OSGEP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 NUP107 Eleanor Williams Source Expert Review Green was added to NUP107.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 MINPP1 Eleanor Williams Source Expert Review Green was added to MINPP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 LAGE3 Eleanor Williams Source Expert Review Green was added to LAGE3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 HPDL Eleanor Williams Source Expert Review Green was added to HPDL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 HIST1H4C Eleanor Williams Source Expert Review Green was added to HIST1H4C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 GTF2E2 Eleanor Williams Source Expert Review Green was added to GTF2E2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 GPT2 Eleanor Williams Source Expert Review Green was added to GPT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 FOXG1 Eleanor Williams Source Expert Review Green was added to FOXG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 EIF5A Eleanor Williams Source Expert Review Green was added to EIF5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 EIF2S3 Eleanor Williams Source Expert Review Green was added to EIF2S3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 DYNC1I2 Eleanor Williams Source Expert Review Green was added to DYNC1I2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 DPM1 Eleanor Williams Source Expert Review Green was added to DPM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 DNA2 Eleanor Williams Source Expert Review Green was added to DNA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 CTU2 Eleanor Williams Source Expert Review Green was added to CTU2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 CTCF Eleanor Williams Source Expert Review Green was added to CTCF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 CSNK2A1 Eleanor Williams Source Expert Review Green was added to CSNK2A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 CHAMP1 Eleanor Williams Source Expert Review Green was added to CHAMP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 CEP63 Eleanor Williams Source Expert Review Red was added to CEP63.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Severe microcephaly v2.291 CEP57 Eleanor Williams Source Expert Review Green was added to CEP57.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 CAMK2B Eleanor Williams Source Expert Review Green was added to CAMK2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 BUB1B Eleanor Williams Source Expert Review Green was added to BUB1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 BPTF Eleanor Williams Source Expert Review Green was added to BPTF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 AARS Eleanor Williams Source Expert Review Green was added to AARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.290 METTL5 Eleanor Williams Phenotypes for gene: METTL5 were changed from Intellectual developmental disorder, autosomal recessive 72, 618665 to Intellectual developmental disorder, autosomal recessive 72, OMIM:618665
Severe microcephaly v2.289 METTL5 Eleanor Williams Tag for-review was removed from gene: METTL5.
Severe microcephaly v2.289 AP4S1 Eleanor Williams Publications for gene: AP4S1 were set to 21620353; 25552650; 27444738
Severe microcephaly v2.288 AP4S1 Eleanor Williams Tag for-review was removed from gene: AP4S1.
Severe microcephaly v2.288 AP4M1 Eleanor Williams Tag for-review was removed from gene: AP4M1.
Tag missense tag was added to gene: AP4M1.
Severe microcephaly v2.288 AP4B1 Eleanor Williams Tag for-review was removed from gene: AP4B1.
Severe microcephaly v2.288 UBE3A Eleanor Williams Phenotypes for gene: UBE3A were changed from Angelman syndrome 105830 to Angelman syndrome, OMIM:105830
Severe microcephaly v2.287 UBE3A Eleanor Williams Tag for-review was removed from gene: UBE3A.
Severe microcephaly v2.287 ZNF526 Eleanor Williams Tag for-review was removed from gene: ZNF526.
Severe microcephaly v2.287 SMG8 Eleanor Williams Tag for-review was removed from gene: SMG8.
Intellectual disability v3.1514 EXT2 Arina Puzriakova Tag for-review was removed from gene: EXT2.
Intellectual disability v3.1514 CTNND1 Arina Puzriakova Tag for-review was removed from gene: CTNND1.
Intellectual disability v3.1514 SLC12A6 Arina Puzriakova commented on gene: SLC12A6
Intellectual disability v3.1514 SLC12A6 Arina Puzriakova Tag for-review was removed from gene: SLC12A6.
Intellectual disability v3.1514 SCN8A Arina Puzriakova Tag for-review was removed from gene: SCN8A.
Intellectual disability v3.1514 CDK19 Arina Puzriakova Tag for-review was removed from gene: CDK19.
Intellectual disability v3.1514 ABCA2 Arina Puzriakova Tag for-review was removed from gene: ABCA2.
Intellectual disability v3.1514 PIGH Arina Puzriakova Tag for-review was removed from gene: PIGH.
Intellectual disability v3.1514 METTL5 Arina Puzriakova Tag for-review was removed from gene: METTL5.
Intellectual disability v3.1514 LMBRD2 Arina Puzriakova Tag for-review was removed from gene: LMBRD2.
Intellectual disability v3.1514 LIAS Arina Puzriakova Tag for-review was removed from gene: LIAS.
Intellectual disability v3.1514 CSNK1G1 Arina Puzriakova Tag for-review was removed from gene: CSNK1G1.
Intellectual disability v3.1514 ALG14 Arina Puzriakova Tag for-review was removed from gene: ALG14.
Intellectual disability v3.1514 AGO2 Arina Puzriakova Tag for-review was removed from gene: AGO2.
Intellectual disability v3.1514 PNPT1 Arina Puzriakova Tag for-review was removed from gene: PNPT1.
Intellectual disability v3.1514 SCO1 Arina Puzriakova Tag for-review was removed from gene: SCO1.
Intellectual disability v3.1514 FA2H Arina Puzriakova Tag for-review was removed from gene: FA2H.
Intellectual disability v3.1514 COX6B1 Arina Puzriakova Tag for-review was removed from gene: COX6B1.
Intellectual disability v3.1514 MPI Arina Puzriakova Tag for-review was removed from gene: MPI.
Intellectual disability v3.1514 VAMP1 Arina Puzriakova Tag watchlist was removed from gene: VAMP1.
Tag for-review was removed from gene: VAMP1.
Intellectual disability v3.1514 TRIM32 Arina Puzriakova Tag for-review was removed from gene: TRIM32.
Intellectual disability v3.1514 MGP Arina Puzriakova Tag for-review was removed from gene: MGP.
Intellectual disability v3.1514 LGI4 Arina Puzriakova Tag for-review was removed from gene: LGI4.
Intellectual disability v3.1514 HYLS1 Arina Puzriakova Tag for-review was removed from gene: HYLS1.
Intellectual disability v3.1514 HADH Arina Puzriakova Tag for-review was removed from gene: HADH.
Intellectual disability v3.1514 FLVCR1 Arina Puzriakova Tag for-review was removed from gene: FLVCR1.
Intellectual disability v3.1514 ATL1 Arina Puzriakova Tag for-review was removed from gene: ATL1.
Intellectual disability v3.1514 ANKH Arina Puzriakova Tag for-review was removed from gene: ANKH.
Intellectual disability v3.1514 AFG3L2 Arina Puzriakova Mode of inheritance for gene: AFG3L2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v3.1513 AFG3L2 Arina Puzriakova Tag for-review was removed from gene: AFG3L2.
Tag Q2_21_MOI was removed from gene: AFG3L2.
Intellectual disability v3.1513 KCNC3 Arina Puzriakova Tag for-review was removed from gene: KCNC3.
Intellectual disability v3.1513 ALKBH8 Arina Puzriakova Tag for-review was removed from gene: ALKBH8.
Intellectual disability v3.1513 SOX3 Arina Puzriakova Tag for-review was removed from gene: SOX3.
Intellectual disability v3.1513 PRKD1 Arina Puzriakova Tag for-review was removed from gene: PRKD1.
Intellectual disability v3.1513 GPSM2 Arina Puzriakova Tag for-review was removed from gene: GPSM2.
Intellectual disability v3.1513 DDOST Arina Puzriakova Tag for-review was removed from gene: DDOST.
Intellectual disability v3.1513 CYP2U1 Arina Puzriakova Tag for-review was removed from gene: CYP2U1.
Intellectual disability v3.1513 AGPS Arina Puzriakova Tag for-review was removed from gene: AGPS.
Intellectual disability v3.1513 TMEM106B Arina Puzriakova Tag for-review was removed from gene: TMEM106B.
Intellectual disability v3.1513 NEMF Arina Puzriakova Tag for-review was removed from gene: NEMF.
Intellectual disability v3.1513 MPP5 Arina Puzriakova Tag for-review was removed from gene: MPP5.
Intellectual disability v3.1513 MAPK1 Arina Puzriakova Tag for-review was removed from gene: MAPK1.
Intellectual disability v3.1513 LMNB1 Arina Puzriakova Tag for-review was removed from gene: LMNB1.
Intellectual disability v3.1513 KIF21B Arina Puzriakova Tag for-review was removed from gene: KIF21B.
Intellectual disability v3.1513 JARID2 Arina Puzriakova Tag for-review was removed from gene: JARID2.
Intellectual disability v3.1513 FAM50A Arina Puzriakova Tag for-review was removed from gene: FAM50A.
Intellectual disability v3.1513 CEP120 Arina Puzriakova Tag for-review was removed from gene: CEP120.
Intellectual disability v3.1513 ZNF526 Arina Puzriakova Tag for-review was removed from gene: ZNF526.
Intellectual disability v3.1513 TFE3 Arina Puzriakova Tag for-review was removed from gene: TFE3.
Intellectual disability v3.1513 PIGQ Arina Puzriakova Tag for-review was removed from gene: PIGQ.
Intellectual disability v3.1513 KAT5 Arina Puzriakova Tag for-review was removed from gene: KAT5.
Intellectual disability v3.1513 ZNF335 Arina Puzriakova Tag for-review was removed from gene: ZNF335.
Intellectual disability v3.1513 ZIC1 Arina Puzriakova Tag for-review was removed from gene: ZIC1.
Intellectual disability v3.1513 SETD1A Arina Puzriakova Tag for-review was removed from gene: SETD1A.
Intellectual disability v3.1513 PET100 Arina Puzriakova Tag for-review was removed from gene: PET100.
Intellectual disability v3.1513 NUDT2 Arina Puzriakova Tag for-review was removed from gene: NUDT2.
Intellectual disability v3.1513 MFSD2A Arina Puzriakova Tag for-review was removed from gene: MFSD2A.
Severe microcephaly v2.287 NARS Eleanor Williams Tag for-review was removed from gene: NARS.
Intellectual disability v3.1513 MAPRE2 Arina Puzriakova Tag for-review was removed from gene: MAPRE2.
Severe microcephaly v2.287 MORC2 Eleanor Williams Tag for-review was removed from gene: MORC2.
Severe microcephaly v2.287 LMNB2 Eleanor Williams Tag for-review was removed from gene: LMNB2.
Intellectual disability v3.1513 CDH2 Arina Puzriakova Tag for-review was removed from gene: CDH2.
Severe microcephaly v2.287 LMNB1 Eleanor Williams Tag for-review was removed from gene: LMNB1.
Intellectual disability v3.1513 SMG8 Arina Puzriakova Tag for-review was removed from gene: SMG8.
Intellectual disability v3.1513 LSS Arina Puzriakova Tag watchlist was removed from gene: LSS.
Tag for-review was removed from gene: LSS.
Intellectual disability v3.1513 KCNMA1 Arina Puzriakova Tag for-review was removed from gene: KCNMA1.
Intellectual disability v3.1513 H3F3B Arina Puzriakova Tag for-review was removed from gene: H3F3B.
Intellectual disability v3.1513 H3F3A Arina Puzriakova Tag for-review was removed from gene: H3F3A.
Intellectual disability v3.1513 KDM4B Arina Puzriakova Tag for-review was removed from gene: KDM4B.
Intellectual disability v3.1513 BICRA Arina Puzriakova Tag for-review was removed from gene: BICRA.
Intellectual disability v3.1513 ZFHX4 Arina Puzriakova Tag for-review was removed from gene: ZFHX4.
Intellectual disability v3.1513 SHMT2 Arina Puzriakova Tag for-review was removed from gene: SHMT2.
Intellectual disability v3.1513 NARS Arina Puzriakova Tag for-review was removed from gene: NARS.
Intellectual disability v3.1513 MORC2 Arina Puzriakova Tag for-review was removed from gene: MORC2.
Intellectual disability v3.1513 LARS Arina Puzriakova Tag for-review was removed from gene: LARS.
Intellectual disability v3.1513 POLR1C Arina Puzriakova Tag for-review was removed from gene: POLR1C.
Intellectual disability v3.1513 NUS1 Arina Puzriakova Tag for-review was removed from gene: NUS1.
Intellectual disability v3.1513 NUS1 Arina Puzriakova Phenotypes for gene: NUS1 were changed from #617082 - ?Congenital disorder of glycosylation, type 1aa; #617831 - Mental retardation, autosomal dominant 55, with seizures; Abnormality of extrapyramidal motor function to Mental retardation, autosomal dominant 55, with seizures, OMIM:617831; Congenital disorder of glycosylation, type 1aa, OMIM:617082
Early onset or syndromic epilepsy v2.492 NUS1 Arina Puzriakova Phenotypes for gene: NUS1 were changed from ?Congenital disorder of glycosylation, type 1aa OMIM:617082; Mental retardation, autosomal dominant 55, with seizures OMIM:617831; Abnormality of extrapyramidal motor function to Mental retardation, autosomal dominant 55, with seizures, OMIM:617831; Congenital disorder of glycosylation, type 1aa, OMIM:617082
Intellectual disability v3.1512 NUS1 Arina Puzriakova Mode of inheritance for gene: NUS1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability v3.1511 PUM1 Arina Puzriakova Tag for-review was removed from gene: PUM1.
Intellectual disability v3.1511 RALGAPA1 Arina Puzriakova Tag for-review was removed from gene: RALGAPA1.
Intellectual disability v3.1511 RARS Arina Puzriakova Tag for-review was removed from gene: RARS.
Intellectual disability v3.1511 CEP55 Arina Puzriakova Tag for-review was removed from gene: CEP55.
Intellectual disability v3.1511 CTU2 Arina Puzriakova Tag for-review was removed from gene: CTU2.
Intellectual disability v3.1511 TRAPPC4 Arina Puzriakova Tag for-review was removed from gene: TRAPPC4.
Intellectual disability v3.1511 UGP2 Arina Puzriakova Tag for-review was removed from gene: UGP2.
Intellectual disability v3.1511 CXorf56 Arina Puzriakova Tag for-review was removed from gene: CXorf56.
Intellectual disability v3.1511 KAT8 Arina Puzriakova Tag for-review was removed from gene: KAT8.
Intellectual disability v3.1511 SLC5A6 Arina Puzriakova Tag for-review was removed from gene: SLC5A6.
Intellectual disability v3.1511 SNX27 Arina Puzriakova Tag for-review was removed from gene: SNX27.
Intellectual disability v3.1511 WNT1 Arina Puzriakova Tag for-review was removed from gene: WNT1.
Intellectual disability v3.1511 YIF1B Arina Puzriakova Tag for-review was removed from gene: YIF1B.
Intellectual disability v3.1511 VARS2 Arina Puzriakova Tag for-review was removed from gene: VARS2.
Intellectual disability v3.1511 UGDH Arina Puzriakova Tag for-review was removed from gene: UGDH.
Intellectual disability v3.1511 TTC5 Arina Puzriakova Tag for-review was removed from gene: TTC5.
Intellectual disability v3.1511 TRNT1 Arina Puzriakova Tag for-review was removed from gene: TRNT1.
Intellectual disability v3.1511 TNRC6B Arina Puzriakova Tag for-review was removed from gene: TNRC6B.
Intellectual disability v3.1511 TET3 Arina Puzriakova Tag for-review was removed from gene: TET3.
Intellectual disability v3.1511 TENM3 Arina Puzriakova Tag for-review was removed from gene: TENM3.
Intellectual disability v3.1511 TASP1 Arina Puzriakova Tag for-review was removed from gene: TASP1.
Intellectual disability v3.1511 SUZ12 Arina Puzriakova Tag for-review was removed from gene: SUZ12.
Intellectual disability v3.1511 SUPT16H Arina Puzriakova Tag for-review was removed from gene: SUPT16H.
Intellectual disability v3.1511 SPTBN4 Arina Puzriakova Tag for-review was removed from gene: SPTBN4.
Intellectual disability v3.1511 SPOP Arina Puzriakova Tag for-review was removed from gene: SPOP.
Intellectual disability v3.1511 SOX6 Arina Puzriakova Tag for-review was removed from gene: SOX6.
Intellectual disability v3.1511 SLC1A1 Arina Puzriakova Tag for-review was removed from gene: SLC1A1.
Intellectual disability v3.1511 SLC12A2 Arina Puzriakova Tag for-review was removed from gene: SLC12A2.
Intellectual disability v3.1511 SFXN4 Arina Puzriakova Tag for-review was removed from gene: SFXN4.
Intellectual disability v3.1511 SBF1 Arina Puzriakova Tag for-review was removed from gene: SBF1.
Intellectual disability v3.1511 SARS2 Arina Puzriakova Tag for-review was removed from gene: SARS2.
Intellectual disability v3.1511 RSRC1 Arina Puzriakova Tag for-review was removed from gene: RSRC1.
Intellectual disability v3.1511 PPP1R12A Arina Puzriakova Tag for-review was removed from gene: PPP1R12A.
Intellectual disability v3.1511 PIGS Arina Puzriakova Tag for-review was removed from gene: PIGS.
Intellectual disability v3.1511 PIGK Arina Puzriakova Tag for-review was removed from gene: PIGK.
Intellectual disability v3.1511 PIBF1 Arina Puzriakova Tag for-review was removed from gene: PIBF1.
Intellectual disability v3.1511 PDHB Arina Puzriakova Tag for-review was removed from gene: PDHB.
Intellectual disability v3.1511 OXR1 Arina Puzriakova Tag for-review was removed from gene: OXR1.
Intellectual disability v3.1511 NRROS Arina Puzriakova Tag for-review was removed from gene: NRROS.
Intellectual disability v3.1511 NOVA2 Arina Puzriakova Tag for-review was removed from gene: NOVA2.
Intellectual disability v3.1511 NDUFA2 Arina Puzriakova Tag for-review was removed from gene: NDUFA2.
Intellectual disability v3.1511 MTHFS Arina Puzriakova Tag for-review was removed from gene: MTHFS.
Intellectual disability v3.1511 MN1 Arina Puzriakova Tag for-review was removed from gene: MN1.
Intellectual disability v3.1511 LYRM7 Arina Puzriakova Tag for-review was removed from gene: LYRM7.
Intellectual disability v3.1511 LIPT1 Arina Puzriakova Tag for-review was removed from gene: LIPT1.
Intellectual disability v3.1511 KLF7 Arina Puzriakova Tag for-review was removed from gene: KLF7.
Intellectual disability v3.1511 KCNN3 Arina Puzriakova Tag for-review was removed from gene: KCNN3.
Intellectual disability v3.1511 HNRNPH1 Arina Puzriakova Tag for-review was removed from gene: HNRNPH1.
Intellectual disability v3.1511 GPC4 Arina Puzriakova Tag for-review was removed from gene: GPC4.
Intellectual disability v3.1511 GALNT2 Arina Puzriakova Tag for-review was removed from gene: GALNT2.
Intellectual disability v3.1511 EIF2AK2 Arina Puzriakova Tag for-review was removed from gene: EIF2AK2.
Intellectual disability v3.1511 EARS2 Arina Puzriakova Tag for-review was removed from gene: EARS2.
Intellectual disability v3.1511 DNM1L Arina Puzriakova Tag for-review was removed from gene: DNM1L.
Intellectual disability v3.1511 DHX37 Arina Puzriakova Tag for-review was removed from gene: DHX37.
Intellectual disability v3.1511 CNTNAP1 Arina Puzriakova Tag for-review was removed from gene: CNTNAP1.
Intellectual disability v3.1511 B9D2 Arina Puzriakova Tag for-review was removed from gene: B9D2.
Intellectual disability v3.1511 ATAD1 Arina Puzriakova Tag for-review was removed from gene: ATAD1.
Intellectual disability v3.1511 ADD3 Arina Puzriakova Tag for-review was removed from gene: ADD3.
Intellectual disability v3.1511 ADARB1 Arina Puzriakova Tag for-review was removed from gene: ADARB1.
Intellectual disability v3.1511 DLL1 Arina Puzriakova Tag for-review was removed from gene: DLL1.
Severe microcephaly v2.287 DNMT3A Eleanor Williams Tag for-review was removed from gene: DNMT3A.
Severe microcephaly v2.287 ZNF335 Eleanor Williams Phenotypes for gene: ZNF335 were changed from Microcephaly 10, primary, autosomal recessive, 615095 to Microcephaly 10, primary, autosomal recessive, OMIM:615095
Severe microcephaly v2.286 ZNF335 Eleanor Williams Tag for-review was removed from gene: ZNF335.
Severe microcephaly v2.286 ATP1A2 Eleanor Williams Tag for-review was removed from gene: ATP1A2.
Severe microcephaly v2.286 KIF14 Eleanor Williams Tag for-review was removed from gene: KIF14.
Severe microcephaly v2.286 AP4E1 Eleanor Williams Tag for-review was removed from gene: AP4E1.
Severe microcephaly v2.286 SVBP Eleanor Williams Tag for-review was removed from gene: SVBP.
Severe microcephaly v2.286 CEP55 Eleanor Williams Tag for-review was removed from gene: CEP55.
Severe microcephaly v2.286 TMX2 Eleanor Williams Tag for-review was removed from gene: TMX2.
Severe microcephaly v2.286 TUBGCP2 Eleanor Williams Phenotypes for gene: TUBGCP2 were changed from Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, 618737 to Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737
Severe microcephaly v2.285 TUBGCP2 Eleanor Williams Tag for-review was removed from gene: TUBGCP2.
Severe microcephaly v2.285 TTC5 Eleanor Williams Tag for-review was removed from gene: TTC5.
Severe microcephaly v2.285 NUP188 Eleanor Williams Phenotypes for gene: NUP188 were changed from Sandestig-Stefanova syndrome, 618804 to Sandestig-Stefanova syndrome, OMIM:618804
Severe microcephaly v2.284 NUP188 Eleanor Williams Tag for-review was removed from gene: NUP188.
Severe microcephaly v2.284 NCAPD2 Eleanor Williams Phenotypes for gene: NCAPD2 were changed from Microcephaly 21, primary, autosomal recessive, 617983 to Microcephaly 21, primary, autosomal recessive, OMIM:617983
Severe microcephaly v2.283 NCAPD2 Eleanor Williams Tag for-review was removed from gene: NCAPD2.
Severe microcephaly v2.283 ADARB1 Eleanor Williams Phenotypes for gene: ADARB1 were changed from Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862 to Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, OMIM:618862
Severe microcephaly v2.282 ADARB1 Eleanor Williams Tag for-review was removed from gene: ADARB1.
Severe microcephaly v2.282 PPIL1 Eleanor Williams Tag for-review was removed from gene: PPIL1.
Severe microcephaly v2.282 FBRSL1 Eleanor Williams Tag for-review was removed from gene: FBRSL1.
Severe microcephaly v2.282 ANKLE2 Eleanor Williams Tag for-review was removed from gene: ANKLE2.
Severe microcephaly v2.282 COASY Eleanor Williams Tag watchlist was removed from gene: COASY.
Tag for-review was removed from gene: COASY.
Severe microcephaly v2.282 TRAPPC12 Eleanor Williams Tag for-review was removed from gene: TRAPPC12.
Severe microcephaly v2.282 METTL5 Sarah Leigh commented on gene: METTL5
Severe microcephaly v2.282 AP4S1 Sarah Leigh commented on gene: AP4S1: Comment from NHS Genomic Medicine Service: primary presentation is ID/DD/spasticity/hypotonia: green on ID and HSP and hypotonic infant panels - not clear if severe microephaly exists in absence of these.
Severe microcephaly v2.282 AP4S1 Sarah Leigh commented on gene: AP4S1
Severe microcephaly v2.282 AP4M1 Sarah Leigh commented on gene: AP4M1: Comment from NHS Genomic Medicine Service: primary presentation is ID/DD/spasticity/hypotonia: green on ID and HSP and hypotonic infant panels - not clear if severe microephaly exists in absence of these.
Severe microcephaly v2.282 AP4M1 Sarah Leigh commented on gene: AP4M1
Severe microcephaly v2.282 AP4B1 Sarah Leigh commented on gene: AP4B1: Comment from NHS Genomic Medicine Service: primary presentation is ID/DD/spasticity/hypotonia: green on ID and HSP and hypotonic infant panels - not clear if severe microephaly exists in absence of these
Severe microcephaly v2.282 AP4B1 Sarah Leigh commented on gene: AP4B1
Severe microcephaly v2.282 UBE3A Sarah Leigh commented on gene: UBE3A: Comment from NHS Genomic Medicine Service: Primary presentation is ID/DD: green on ID & other panels - not clear if severe microephaly exists in absence of these other features? Microcephaly isn't listed as a key feature in Genereviews for females, ands is only present in some males (with severe epilepsy).
Severe microcephaly v2.282 UBE3A Sarah Leigh commented on gene: UBE3A: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Severe microcephaly v2.282 ZNF526 Sarah Leigh commented on gene: ZNF526
Severe microcephaly v2.282 SMG8 Sarah Leigh commented on gene: SMG8
Severe microcephaly v2.282 NARS Sarah Leigh commented on gene: NARS
Severe microcephaly v2.282 MORC2 Sarah Leigh commented on gene: MORC2
Severe microcephaly v2.282 LMNB2 Sarah Leigh commented on gene: LMNB2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Severe microcephaly v2.282 LMNB1 Sarah Leigh commented on gene: LMNB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Severe microcephaly v2.282 DNMT3A Sarah Leigh commented on gene: DNMT3A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Severe microcephaly v2.282 ZNF335 Sarah Leigh commented on gene: ZNF335
Severe microcephaly v2.282 ATP1A2 Sarah Leigh commented on gene: ATP1A2
Severe microcephaly v2.282 KIF14 Sarah Leigh commented on gene: KIF14
Severe microcephaly v2.282 AP4E1 Sarah Leigh commented on gene: AP4E1
Severe microcephaly v2.282 SVBP Sarah Leigh commented on gene: SVBP
Severe microcephaly v2.282 CEP55 Sarah Leigh commented on gene: CEP55
Severe microcephaly v2.282 TMX2 Sarah Leigh commented on gene: TMX2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Severe microcephaly v2.282 TUBGCP2 Sarah Leigh commented on gene: TUBGCP2
Severe microcephaly v2.282 TTC5 Sarah Leigh commented on gene: TTC5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Severe microcephaly v2.282 NUP188 Sarah Leigh commented on gene: NUP188
Severe microcephaly v2.282 NCAPD2 Sarah Leigh commented on gene: NCAPD2
Severe microcephaly v2.282 ADARB1 Sarah Leigh commented on gene: ADARB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Severe microcephaly v2.282 PPIL1 Sarah Leigh commented on gene: PPIL1
Severe microcephaly v2.282 FBRSL1 Sarah Leigh commented on gene: FBRSL1
Severe microcephaly v2.282 ANKLE2 Sarah Leigh commented on gene: ANKLE2
Severe microcephaly v2.282 COASY Sarah Leigh commented on gene: COASY: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Severe microcephaly v2.282 TRAPPC12 Sarah Leigh commented on gene: TRAPPC12
Severe microcephaly v2.281 METTL5 Eleanor Williams Source Expert Review Green was added to METTL5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.281 ZNF526 Eleanor Williams Source Expert Review Green was added to ZNF526.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.281 SMG8 Eleanor Williams Source Expert Review Green was added to SMG8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.281 NARS Eleanor Williams Source Expert Review Green was added to NARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.281 MORC2 Eleanor Williams Source Expert Review Green was added to MORC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.281 LMNB2 Eleanor Williams Source Expert Review Green was added to LMNB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.281 LMNB1 Eleanor Williams Source Expert Review Green was added to LMNB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.281 DNMT3A Eleanor Williams Source Expert Review Green was added to DNMT3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.281 ZNF335 Eleanor Williams Source Expert Review Green was added to ZNF335.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.281 ATP1A2 Eleanor Williams Source Expert Review Green was added to ATP1A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.281 KIF14 Eleanor Williams Source Expert Review Green was added to KIF14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.281 AP4E1 Eleanor Williams Source Expert Review Green was added to AP4E1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.281 SVBP Eleanor Williams Source Expert Review Green was added to SVBP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.281 CEP55 Eleanor Williams Source Expert Review Green was added to CEP55.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.281 TMX2 Eleanor Williams Source Expert Review Green was added to TMX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.281 TUBGCP2 Eleanor Williams Source Expert Review Green was added to TUBGCP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.281 TTC5 Eleanor Williams Source Expert Review Green was added to TTC5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.281 NUP188 Eleanor Williams Source Expert Review Green was added to NUP188.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.281 NCAPD2 Eleanor Williams Source Expert Review Green was added to NCAPD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.281 ADARB1 Eleanor Williams Source Expert Review Green was added to ADARB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.281 PPIL1 Eleanor Williams Source Expert Review Green was added to PPIL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.281 FBRSL1 Eleanor Williams Source Expert Review Green was added to FBRSL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.281 ANKLE2 Eleanor Williams Source Expert Review Green was added to ANKLE2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.281 COASY Eleanor Williams Source Expert Review Green was added to COASY.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.281 TRAPPC12 Eleanor Williams Source Expert Review Green was added to TRAPPC12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary ataxia, adult onset v2.144 ADGRG1 Eleanor Williams Tag Q2_21_phenotype was removed from gene: ADGRG1.
Hereditary ataxia, adult onset v2.144 AP1S2 Eleanor Williams Tag Q2_21_phenotype was removed from gene: AP1S2.
Hereditary ataxia, adult onset v2.144 XRCC1 Eleanor Williams Tag Q2_21_expert_review was removed from gene: XRCC1.
Hereditary ataxia, adult onset v2.144 VPS41 Eleanor Williams Tag Q2_21_expert_review was removed from gene: VPS41.
Tag Q2_21_NHS_review was removed from gene: VPS41.
Hereditary ataxia, adult onset v2.144 UCHL1 Eleanor Williams Tag Q2_21_expert_review was removed from gene: UCHL1.
Hereditary ataxia, adult onset v2.144 TSEN15 Eleanor Williams Tag Q2_21_rating was removed from gene: TSEN15.
Hereditary ataxia, adult onset v2.144 TBC1D23 Eleanor Williams Tag Q2_21_phenotype was removed from gene: TBC1D23.
Hereditary ataxia, adult onset v2.144 SLC9A1 Eleanor Williams Tag Q2_21_phenotype was removed from gene: SLC9A1.
Hereditary ataxia, adult onset v2.144 SCYL1 Eleanor Williams Tag Q2_21_phenotype was removed from gene: SCYL1.
Hereditary ataxia, adult onset v2.144 RORA Eleanor Williams Tag Q2_21_phenotype was removed from gene: RORA.
Hereditary ataxia, adult onset v2.144 PRICKLE1 Eleanor Williams Tag Q2_21_phenotype was removed from gene: PRICKLE1.
Hereditary ataxia, adult onset v2.144 MAPK8IP3 Eleanor Williams Tag Q4_21_rating was removed from gene: MAPK8IP3.
Hereditary ataxia, adult onset v2.144 ERCC4 Eleanor Williams Tag Q2_21_rating was removed from gene: ERCC4.
Hereditary ataxia, adult onset v2.144 EBF3 Eleanor Williams Tag Q2_21_phenotype was removed from gene: EBF3.
Hereditary ataxia, adult onset v2.144 CLP1 Eleanor Williams Tag Q2_21_phenotype was removed from gene: CLP1.
Hereditary ataxia, adult onset v2.144 CHMP1A Eleanor Williams Tag Q2_21_phenotype was removed from gene: CHMP1A.
Hereditary ataxia, adult onset v2.144 B4GAT1 Eleanor Williams Tag Q3_21_rating was removed from gene: B4GAT1.
Hereditary ataxia, adult onset v2.144 AUH Eleanor Williams Tag Q2_21_rating was removed from gene: AUH.
Hereditary ataxia, adult onset v2.144 ATP8A2 Eleanor Williams Tag Q2_21_phenotype was removed from gene: ATP8A2.
Tag Q2_21_expert_review was removed from gene: ATP8A2.
Hereditary ataxia, adult onset v2.144 AMPD2 Eleanor Williams Tag Q2_21_phenotype was removed from gene: AMPD2.
Hereditary ataxia, adult onset v2.144 ADPRHL2 Eleanor Williams Tag Q2_21_expert_review was removed from gene: ADPRHL2.
Hereditary ataxia, adult onset v2.144 ABCB7 Eleanor Williams Tag Q2_21_phenotype was removed from gene: ABCB7.
Hereditary ataxia, adult onset v2.144 XRCC1 Sarah Leigh commented on gene: XRCC1
Hereditary ataxia, adult onset v2.144 VPS41 Sarah Leigh commented on gene: VPS41
Hereditary ataxia, adult onset v2.144 UCHL1 Sarah Leigh commented on gene: UCHL1
Hereditary ataxia, adult onset v2.144 TSEN15 Sarah Leigh commented on gene: TSEN15
Hereditary ataxia, adult onset v2.144 TBC1D23 Sarah Leigh commented on gene: TBC1D23: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary ataxia, adult onset v2.144 SLC9A1 Sarah Leigh commented on gene: SLC9A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary ataxia, adult onset v2.144 SCYL1 Sarah Leigh commented on gene: SCYL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary ataxia, adult onset v2.144 RORA Sarah Leigh commented on gene: RORA: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary ataxia, adult onset v2.144 PRICKLE1 Sarah Leigh commented on gene: PRICKLE1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary ataxia, adult onset v2.144 MAPK8IP3 Sarah Leigh commented on gene: MAPK8IP3
Hereditary ataxia, adult onset v2.144 ERCC4 Sarah Leigh commented on gene: ERCC4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary ataxia, adult onset v2.144 EBF3 Sarah Leigh commented on gene: EBF3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary ataxia, adult onset v2.144 CLP1 Sarah Leigh commented on gene: CLP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary ataxia, adult onset v2.144 CHMP1A Sarah Leigh commented on gene: CHMP1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary ataxia, adult onset v2.144 B4GAT1 Sarah Leigh commented on gene: B4GAT1
Hereditary ataxia, adult onset v2.144 AUH Sarah Leigh commented on gene: AUH
Hereditary ataxia, adult onset v2.144 ATP8A2 Sarah Leigh commented on gene: ATP8A2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary ataxia, adult onset v2.144 AP1S2 Sarah Leigh commented on gene: AP1S2
Hereditary ataxia, adult onset v2.144 AMPD2 Sarah Leigh commented on gene: AMPD2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary ataxia, adult onset v2.144 ADPRHL2 Sarah Leigh commented on gene: ADPRHL2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary ataxia, adult onset v2.144 ADGRG1 Sarah Leigh commented on gene: ADGRG1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary ataxia, adult onset v2.144 ABCB7 Sarah Leigh commented on gene: ABCB7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary ataxia, adult onset v2.143 UCHL1 Eleanor Williams Source Expert Review Amber was added to UCHL1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary ataxia, adult onset v2.143 TSEN15 Eleanor Williams Source Expert Review Red was added to TSEN15.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia, adult onset v2.143 TBC1D23 Eleanor Williams Source Expert Review Amber was added to TBC1D23.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary ataxia, adult onset v2.143 SLC9A1 Eleanor Williams Source Expert Review Amber was added to SLC9A1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary ataxia, adult onset v2.143 SCYL1 Eleanor Williams Source Expert Review Amber was added to SCYL1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary ataxia, adult onset v2.143 RORA Eleanor Williams Source Expert Review Amber was added to RORA.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary ataxia, adult onset v2.143 PRICKLE1 Eleanor Williams Source Expert Review Amber was added to PRICKLE1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary ataxia, adult onset v2.143 MAPK8IP3 Eleanor Williams Source Expert Review Red was added to MAPK8IP3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia, adult onset v2.143 ERCC4 Eleanor Williams Source Expert Review Green was added to ERCC4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary ataxia, adult onset v2.143 EBF3 Eleanor Williams Source Expert Review Amber was added to EBF3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary ataxia, adult onset v2.143 CLP1 Eleanor Williams Source Expert Review Amber was added to CLP1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary ataxia, adult onset v2.143 CHMP1A Eleanor Williams Source Expert Review Amber was added to CHMP1A.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary ataxia, adult onset v2.143 B4GAT1 Eleanor Williams Source Expert Review Red was added to B4GAT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia, adult onset v2.143 AUH Eleanor Williams Source Expert Review Green was added to AUH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary ataxia, adult onset v2.143 ATP8A2 Eleanor Williams Source Expert Review Amber was added to ATP8A2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary ataxia, adult onset v2.143 AP1S2 Eleanor Williams Source Expert Review Amber was added to AP1S2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary ataxia, adult onset v2.143 AMPD2 Eleanor Williams Source Expert Review Amber was added to AMPD2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary ataxia, adult onset v2.143 ADPRHL2 Eleanor Williams Source Expert Review Amber was added to ADPRHL2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary ataxia, adult onset v2.143 ADGRG1 Eleanor Williams Source Expert Review Amber was added to ADGRG1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary ataxia, adult onset v2.143 ABCB7 Eleanor Williams Source Expert Review Amber was added to ABCB7.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Intellectual disability v3.1511 RNF113A Arina Puzriakova Tag for-review was removed from gene: RNF113A.
Intellectual disability v3.1511 GAD1 Arina Puzriakova Tag for-review was removed from gene: GAD1.
Intellectual disability v3.1511 ALG9 Arina Puzriakova Tag for-review was removed from gene: ALG9.
Intellectual disability v3.1511 STT3A Arina Puzriakova Tag for-review was removed from gene: STT3A.
Intellectual disability v3.1511 NEDD4L Arina Puzriakova Tag for-review was removed from gene: NEDD4L.
Intellectual disability v3.1511 MADD Arina Puzriakova Mode of inheritance for gene: MADD was changed from to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v3.1510 MADD Arina Puzriakova Tag for-review was removed from gene: MADD.
Intellectual disability v3.1510 KDM6B Arina Puzriakova Tag for-review was removed from gene: KDM6B.
Intellectual disability v3.1510 HERC2 Arina Puzriakova Tag for-review was removed from gene: HERC2.
Intellectual disability v3.1510 AHCY Arina Puzriakova Tag for-review was removed from gene: AHCY.
Intellectual disability v3.1510 PIGP Arina Puzriakova Tag for-review was removed from gene: PIGP.
Intellectual disability v3.1510 RNF13 Arina Puzriakova Tag watchlist was removed from gene: RNF13.
Tag for-review was removed from gene: RNF13.
Intellectual disability v3.1510 PTRHD1 Arina Puzriakova Tag for-review was removed from gene: PTRHD1.
Intellectual disability v3.1510 XYLT1 Arina Puzriakova Tag for-review was removed from gene: XYLT1.
Intellectual disability v3.1510 WDFY3 Arina Puzriakova Tag for-review was removed from gene: WDFY3.
Intellectual disability v3.1510 USP7 Arina Puzriakova Tag for-review was removed from gene: USP7.
Intellectual disability v3.1510 TRPM3 Arina Puzriakova Tag watchlist was removed from gene: TRPM3.
Tag for-review was removed from gene: TRPM3.
Intellectual disability v3.1510 NR4A2 Arina Puzriakova Tag watchlist was removed from gene: NR4A2.
Tag for-review was removed from gene: NR4A2.
Intellectual disability v3.1510 CEP104 Arina Puzriakova Tag for-review was removed from gene: CEP104.
Intellectual disability v3.1510 C2CD3 Arina Puzriakova Tag for-review was removed from gene: C2CD3.
Intellectual disability v3.1510 ATP1A2 Arina Puzriakova Tag for-review was removed from gene: ATP1A2.
Intellectual disability v3.1510 ABAT Arina Puzriakova Tag for-review was removed from gene: ABAT.
Intellectual disability v3.1510 TCTN3 Arina Puzriakova Tag for-review was removed from gene: TCTN3.
Intellectual disability v3.1510 TOR1A Arina Puzriakova Tag for-review was removed from gene: TOR1A.
Intellectual disability v3.1510 TANC2 Arina Puzriakova Tag for-review was removed from gene: TANC2.
Intellectual disability v3.1510 ADAM22 Arina Puzriakova Tag for-review was removed from gene: ADAM22.
Intellectual disability v3.1510 UBR7 Arina Puzriakova Tag for-review was removed from gene: UBR7.
Intellectual disability v3.1510 VPS4A Arina Puzriakova Tag for-review was removed from gene: VPS4A.
Intellectual disability v3.1510 RNU7-1 Arina Puzriakova Tag for-review was removed from gene: RNU7-1.
Intellectual disability v3.1510 PPIL1 Arina Puzriakova Tag for-review was removed from gene: PPIL1.
Intellectual disability v3.1510 FBRSL1 Arina Puzriakova Tag for-review was removed from gene: FBRSL1.
Hereditary ataxia, adult onset v2.142 TMEM106B Eleanor Williams Publications for gene: TMEM106B were set to
Hereditary ataxia, adult onset v2.141 TMEM106B Eleanor Williams Tag for-review was removed from gene: TMEM106B.
Hereditary ataxia, adult onset v2.141 TMEM106B Sarah Leigh commented on gene: TMEM106B
Hereditary ataxia, adult onset v2.140 TMEM106B Eleanor Williams Source Expert Review Amber was added to TMEM106B.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
White matter disorders and cerebral calcification - childhood onset v1.223 RNU7-1 Ivone Leong Tag for-review was removed from gene: RNU7-1.
White matter disorders and cerebral calcification - childhood onset v1.223 NUP188 Ivone Leong Tag watchlist was removed from gene: NUP188.
White matter disorders and cerebral calcification - childhood onset v1.223 NUP188 Ivone Leong Tag for-review was removed from gene: NUP188.
Tag watchlist tag was added to gene: NUP188.
White matter disorders and cerebral calcification - childhood onset v1.223 SCAF4 Ivone Leong Tag for-review was removed from gene: SCAF4.
White matter disorders and cerebral calcification - childhood onset v1.223 AP4B1 Ivone Leong Tag for-review was removed from gene: AP4B1.
White matter disorders and cerebral calcification - childhood onset v1.223 TMEM106B Ivone Leong Tag for-review was removed from gene: TMEM106B.
White matter disorders and cerebral calcification - childhood onset v1.223 STN1 Ivone Leong Tag for-review was removed from gene: STN1.
White matter disorders and cerebral calcification - childhood onset v1.223 STN1 Sarah Leigh commented on gene: STN1: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
White matter disorders and cerebral calcification - childhood onset v1.223 TMEM106B Sarah Leigh commented on gene: TMEM106B
White matter disorders and cerebral calcification - childhood onset v1.223 AP4B1 Sarah Leigh commented on gene: AP4B1
White matter disorders and cerebral calcification - childhood onset v1.223 SCAF4 Sarah Leigh commented on gene: SCAF4
White matter disorders and cerebral calcification - childhood onset v1.223 NUP188 Sarah Leigh commented on gene: NUP188
White matter disorders and cerebral calcification - childhood onset v1.223 RNU7-1 Sarah Leigh commented on gene: RNU7-1
White matter disorders and cerebral calcification - childhood onset v1.223 STN1 Ivone Leong Source Expert Review Green was added to STN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v1.223 TMEM106B Ivone Leong Source Expert Review Green was added to TMEM106B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v1.223 AP4B1 Ivone Leong Source Expert Review Green was added to AP4B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v1.223 SCAF4 Ivone Leong Source Expert Review Green was added to SCAF4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v1.223 NUP188 Ivone Leong Source Expert Review Green was added to NUP188.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v1.223 RNU7-1 Ivone Leong Source Expert Review Green was added to RNU7-1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Holoprosencephaly v2.25 SMC1A Ivone Leong Tag for-review was removed from gene: SMC1A.
Holoprosencephaly v2.25 STAG2 Ivone Leong Tag for-review was removed from gene: STAG2.
Holoprosencephaly v2.25 STAG2 Sarah Leigh commented on gene: STAG2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Holoprosencephaly v2.25 SMC1A Sarah Leigh commented on gene: SMC1A
Holoprosencephaly v2.24 STAG2 Ivone Leong Source Expert Review Green was added to STAG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Holoprosencephaly v2.24 SMC1A Ivone Leong Source Expert Review Green was added to SMC1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia, childhood onset v2.125 RNU7-1 Ivone Leong Tag for-review was removed from gene: RNU7-1.
Hereditary spastic paraplegia, childhood onset v2.125 PCYT2 Ivone Leong Tag for-review was removed from gene: PCYT2.
Hereditary spastic paraplegia, childhood onset v2.125 STN1 Ivone Leong Tag for-review was removed from gene: STN1.
Hereditary spastic paraplegia, childhood onset v2.125 STN1 Sarah Leigh commented on gene: STN1: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Hereditary spastic paraplegia, childhood onset v2.125 PCYT2 Sarah Leigh commented on gene: PCYT2
Hereditary spastic paraplegia, childhood onset v2.125 RNU7-1 Sarah Leigh commented on gene: RNU7-1
Hereditary spastic paraplegia, childhood onset v2.124 STN1 Ivone Leong Source Expert Review Green was added to STN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia, childhood onset v2.124 PCYT2 Ivone Leong Source Expert Review Green was added to PCYT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia, childhood onset v2.124 RNU7-1 Ivone Leong Source Expert Review Green was added to RNU7-1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v2.74 GFER Ivone Leong Tag for-review was removed from gene: GFER.
Congenital myopathy v2.74 KY Ivone Leong Tag watchlist was removed from gene: KY.
Tag for-review was removed from gene: KY.
Congenital myopathy v2.74 UNC45B Ivone Leong Tag for-review was removed from gene: UNC45B.
Congenital myopathy v2.74 MYH2 Ivone Leong Tag for-review was removed from gene: MYH2.
Congenital myopathy v2.74 MYH2 Sarah Leigh reviewed gene: MYH2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v2.74 UNC45B Sarah Leigh commented on gene: UNC45B: The rating of this gene has been updated followingNHS Genomic Medicine Serviceapproval.
Congenital myopathy v2.74 KY Sarah Leigh commented on gene: KY: The rating of this gene has been updated followingNHS Genomic Medicine Serviceapproval.
Congenital myopathy v2.74 GFER Sarah Leigh commented on gene: GFER
Congenital myopathy v2.73 MYH2 Ivone Leong Source Expert list was added to MYH2.
Mode of inheritance for gene MYH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v2.73 UNC45B Ivone Leong Source Expert Review Green was added to UNC45B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v2.73 KY Ivone Leong Source Expert Review Green was added to KY.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v2.73 GFER Ivone Leong Source Expert Review Green was added to GFER.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1510 CACNB4 Sarah Leigh commented on gene: CACNB4: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability v3.1510 CNOT3 Sarah Leigh commented on gene: CNOT3: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability v3.1510 ZNF335 Sarah Leigh commented on gene: ZNF335: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability v3.1510 MFSD2A Sarah Leigh commented on gene: MFSD2A: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability v3.1510 MAPRE2 Sarah Leigh commented on gene: MAPRE2: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability v3.1510 SCN1B Sarah Leigh commented on gene: SCN1B
Intellectual disability v3.1510 SCAMP5 Sarah Leigh commented on gene: SCAMP5: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability v3.1510 KAT8 Sarah Leigh commented on gene: KAT8: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability v3.1510 GPC4 Sarah Leigh commented on gene: GPC4: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability v3.1510 KDM6B Sarah Leigh commented on gene: KDM6B: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability v3.1510 CDK19 Sarah Leigh commented on gene: CDK19: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability v3.1510 EXT2 Sarah Leigh commented on gene: EXT2: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability v3.1510 TOR1A Sarah Leigh commented on gene: TOR1A: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability v3.1510 ABCA2 Sarah Leigh commented on gene: ABCA2
Intellectual disability v3.1510 PIGH Sarah Leigh commented on gene: PIGH
Intellectual disability v3.1510 METTL5 Sarah Leigh commented on gene: METTL5
Intellectual disability v3.1510 LMBRD2 Sarah Leigh commented on gene: LMBRD2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 LIAS Sarah Leigh commented on gene: LIAS
Intellectual disability v3.1510 CSNK1G1 Sarah Leigh commented on gene: CSNK1G1
Intellectual disability v3.1510 ALG14 Sarah Leigh commented on gene: ALG14: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Intellectual disability v3.1510 SLC12A6 Sarah Leigh commented on gene: SLC12A6: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability v3.1510 COG4 Sarah Leigh commented on gene: COG4: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability v3.1510 SCN8A Sarah Leigh commented on gene: SCN8A: Just 2 families reported with possible AR inheritance: v rare - all het parents seem to have features so prob ok to keep as monoallelic only (source NHS Genomic Medicine Service).
Intellectual disability v3.1510 SCN8A Sarah Leigh commented on gene: SCN8A: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability v3.1510 AGO2 Sarah Leigh commented on gene: AGO2: Green rating is for monoallelic MOI only, many cases reported with speech delay and variable ID (source NHS Genomic Medicine Service).
Intellectual disability v3.1510 AGO2 Sarah Leigh commented on gene: AGO2
Intellectual disability v3.1510 PNPT1 Sarah Leigh commented on gene: PNPT1
Intellectual disability v3.1510 SCO1 Sarah Leigh commented on gene: SCO1
Intellectual disability v3.1510 FA2H Sarah Leigh commented on gene: FA2H: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 COX6B1 Sarah Leigh commented on gene: COX6B1
Intellectual disability v3.1510 MPI Sarah Leigh commented on gene: MPI
Intellectual disability v3.1510 VAMP1 Sarah Leigh commented on gene: VAMP1
Intellectual disability v3.1510 TRIM32 Sarah Leigh commented on gene: TRIM32
Intellectual disability v3.1510 MGP Sarah Leigh commented on gene: MGP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 LGI4 Sarah Leigh commented on gene: LGI4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 HYLS1 Sarah Leigh commented on gene: HYLS1
Intellectual disability v3.1510 HADH Sarah Leigh commented on gene: HADH
Intellectual disability v3.1510 FLVCR1 Sarah Leigh commented on gene: FLVCR1
Intellectual disability v3.1510 ATL1 Sarah Leigh commented on gene: ATL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 ANKH Sarah Leigh commented on gene: ANKH: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 AFG3L2 Sarah Leigh commented on gene: AFG3L2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 KCNC3 Sarah Leigh commented on gene: KCNC3
Intellectual disability v3.1510 ALKBH8 Sarah Leigh commented on gene: ALKBH8
Intellectual disability v3.1510 SOX3 Sarah Leigh commented on gene: SOX3
Intellectual disability v3.1510 PRKD1 Sarah Leigh commented on gene: PRKD1
Intellectual disability v3.1510 GPSM2 Sarah Leigh commented on gene: GPSM2
Intellectual disability v3.1510 DDOST Sarah Leigh commented on gene: DDOST
Intellectual disability v3.1510 CYP2U1 Sarah Leigh commented on gene: CYP2U1
Intellectual disability v3.1510 AGPS Sarah Leigh commented on gene: AGPS
Intellectual disability v3.1510 TMEM106B Sarah Leigh commented on gene: TMEM106B
Intellectual disability v3.1510 NEMF Sarah Leigh commented on gene: NEMF
Intellectual disability v3.1510 MPP5 Sarah Leigh commented on gene: MPP5
Intellectual disability v3.1510 MAPK1 Sarah Leigh commented on gene: MAPK1
Intellectual disability v3.1510 LMNB1 Sarah Leigh commented on gene: LMNB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 KIF21B Sarah Leigh commented on gene: KIF21B
Intellectual disability v3.1510 JARID2 Sarah Leigh commented on gene: JARID2
Intellectual disability v3.1510 FAM50A Sarah Leigh commented on gene: FAM50A
Intellectual disability v3.1510 CEP120 Sarah Leigh commented on gene: CEP120
Intellectual disability v3.1510 ZNF526 Sarah Leigh commented on gene: ZNF526
Intellectual disability v3.1510 TFE3 Sarah Leigh commented on gene: TFE3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 PIGQ Sarah Leigh commented on gene: PIGQ: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 KAT5 Sarah Leigh commented on gene: KAT5
Intellectual disability v3.1510 ZNF335 Sarah Leigh commented on gene: ZNF335
Intellectual disability v3.1510 ZIC1 Sarah Leigh commented on gene: ZIC1
Intellectual disability v3.1510 SETD1A Sarah Leigh commented on gene: SETD1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 PET100 Sarah Leigh commented on gene: PET100
Intellectual disability v3.1510 NUDT2 Sarah Leigh commented on gene: NUDT2
Intellectual disability v3.1510 MFSD2A Sarah Leigh commented on gene: MFSD2A
Intellectual disability v3.1510 MAPRE2 Sarah Leigh commented on gene: MAPRE2
Intellectual disability v3.1510 CDH2 Sarah Leigh commented on gene: CDH2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 SMG8 Sarah Leigh commented on gene: SMG8
Intellectual disability v3.1510 LSS Sarah Leigh commented on gene: LSS
Intellectual disability v3.1510 KCNMA1 Sarah Leigh commented on gene: KCNMA1
Intellectual disability v3.1510 H3F3B Sarah Leigh commented on gene: H3F3B
Intellectual disability v3.1510 H3F3A Sarah Leigh commented on gene: H3F3A
Intellectual disability v3.1510 KDM4B Sarah Leigh commented on gene: KDM4B
Intellectual disability v3.1510 BICRA Sarah Leigh commented on gene: BICRA
Intellectual disability v3.1510 ZFHX4 Sarah Leigh commented on gene: ZFHX4
Intellectual disability v3.1510 SHMT2 Sarah Leigh commented on gene: SHMT2
Intellectual disability v3.1510 NARS Sarah Leigh commented on gene: NARS
Intellectual disability v3.1510 MORC2 Sarah Leigh commented on gene: MORC2
Intellectual disability v3.1510 LARS Sarah Leigh commented on gene: LARS
Intellectual disability v3.1510 POLR1C Sarah Leigh commented on gene: POLR1C
Intellectual disability v3.1510 NUS1 Sarah Leigh commented on gene: NUS1
Intellectual disability v3.1510 PUM1 Sarah Leigh commented on gene: PUM1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 RALGAPA1 Sarah Leigh commented on gene: RALGAPA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 RARS Sarah Leigh commented on gene: RARS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 CEP55 Sarah Leigh commented on gene: CEP55
Intellectual disability v3.1510 CTU2 Sarah Leigh commented on gene: CTU2
Intellectual disability v3.1510 TRAPPC4 Sarah Leigh commented on gene: TRAPPC4
Intellectual disability v3.1510 UGP2 Sarah Leigh commented on gene: UGP2
Intellectual disability v3.1510 CXorf56 Sarah Leigh commented on gene: CXorf56
Intellectual disability v3.1510 KAT8 Sarah Leigh commented on gene: KAT8
Intellectual disability v3.1510 SLC5A6 Sarah Leigh commented on gene: SLC5A6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 SNX27 Sarah Leigh commented on gene: SNX27: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 WNT1 Sarah Leigh commented on gene: WNT1
Intellectual disability v3.1510 YIF1B Sarah Leigh commented on gene: YIF1B
Intellectual disability v3.1510 VARS2 Sarah Leigh commented on gene: VARS2
Intellectual disability v3.1510 UGDH Sarah Leigh commented on gene: UGDH
Intellectual disability v3.1510 TTC5 Sarah Leigh commented on gene: TTC5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 TRNT1 Sarah Leigh commented on gene: TRNT1
Intellectual disability v3.1510 TNRC6B Sarah Leigh commented on gene: TNRC6B
Intellectual disability v3.1510 TET3 Sarah Leigh commented on gene: TET3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 TENM3 Sarah Leigh commented on gene: TENM3
Intellectual disability v3.1510 TASP1 Sarah Leigh commented on gene: TASP1
Intellectual disability v3.1510 SUZ12 Sarah Leigh commented on gene: SUZ12: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 SUPT16H Sarah Leigh commented on gene: SUPT16H
Intellectual disability v3.1510 SPTBN4 Sarah Leigh commented on gene: SPTBN4
Intellectual disability v3.1510 SPOP Sarah Leigh commented on gene: SPOP
Intellectual disability v3.1510 SOX6 Sarah Leigh commented on gene: SOX6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 SLC1A1 Sarah Leigh commented on gene: SLC1A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 SLC12A2 Sarah Leigh commented on gene: SLC12A2
Intellectual disability v3.1510 SFXN4 Sarah Leigh commented on gene: SFXN4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 SBF1 Sarah Leigh commented on gene: SBF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 SARS2 Sarah Leigh commented on gene: SARS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 RSRC1 Sarah Leigh commented on gene: RSRC1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 PPP1R12A Sarah Leigh commented on gene: PPP1R12A
Intellectual disability v3.1510 PIGS Sarah Leigh commented on gene: PIGS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 PIGK Sarah Leigh commented on gene: PIGK: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 PIBF1 Sarah Leigh commented on gene: PIBF1
Intellectual disability v3.1510 PDHB Sarah Leigh commented on gene: PDHB
Intellectual disability v3.1510 OXR1 Sarah Leigh commented on gene: OXR1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 NRROS Sarah Leigh commented on gene: NRROS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 NOVA2 Sarah Leigh commented on gene: NOVA2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 NDUFA2 Sarah Leigh commented on gene: NDUFA2
Intellectual disability v3.1510 MTHFS Sarah Leigh commented on gene: MTHFS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 MN1 Sarah Leigh commented on gene: MN1
Intellectual disability v3.1510 LYRM7 Sarah Leigh commented on gene: LYRM7
Intellectual disability v3.1510 LIPT1 Sarah Leigh commented on gene: LIPT1
Intellectual disability v3.1510 KLF7 Sarah Leigh commented on gene: KLF7
Intellectual disability v3.1510 KCNN3 Sarah Leigh commented on gene: KCNN3
Intellectual disability v3.1510 HNRNPH1 Sarah Leigh commented on gene: HNRNPH1
Intellectual disability v3.1510 GPC4 Sarah Leigh commented on gene: GPC4
Intellectual disability v3.1510 GALNT2 Sarah Leigh commented on gene: GALNT2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 EIF2AK2 Sarah Leigh commented on gene: EIF2AK2
Intellectual disability v3.1510 EARS2 Sarah Leigh commented on gene: EARS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 DNM1L Sarah Leigh commented on gene: DNM1L
Intellectual disability v3.1510 DHX37 Sarah Leigh commented on gene: DHX37
Intellectual disability v3.1510 CTNND1 Sarah Leigh commented on gene: CTNND1
Intellectual disability v3.1510 CNTNAP1 Sarah Leigh commented on gene: CNTNAP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 B9D2 Sarah Leigh commented on gene: B9D2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 ATAD1 Sarah Leigh commented on gene: ATAD1
Intellectual disability v3.1510 ADD3 Sarah Leigh commented on gene: ADD3
Intellectual disability v3.1510 ADARB1 Sarah Leigh commented on gene: ADARB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 DLL1 Sarah Leigh commented on gene: DLL1
Intellectual disability v3.1510 RNF113A Sarah Leigh commented on gene: RNF113A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 GAD1 Sarah Leigh commented on gene: GAD1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 ALG9 Sarah Leigh commented on gene: ALG9: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 STT3A Sarah Leigh commented on gene: STT3A
Intellectual disability v3.1510 NEDD4L Sarah Leigh commented on gene: NEDD4L
Intellectual disability v3.1510 MADD Sarah Leigh commented on gene: MADD
Intellectual disability v3.1510 KDM6B Sarah Leigh commented on gene: KDM6B
Intellectual disability v3.1510 HERC2 Sarah Leigh commented on gene: HERC2
Intellectual disability v3.1510 CDK19 Sarah Leigh commented on gene: CDK19: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 AHCY Sarah Leigh commented on gene: AHCY: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 PIGP Sarah Leigh commented on gene: PIGP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 RNF13 Sarah Leigh commented on gene: RNF13: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 EXT2 Sarah Leigh commented on gene: EXT2
Intellectual disability v3.1510 PTRHD1 Sarah Leigh commented on gene: PTRHD1
Intellectual disability v3.1510 XYLT1 Sarah Leigh commented on gene: XYLT1
Intellectual disability v3.1510 WDFY3 Sarah Leigh commented on gene: WDFY3
Intellectual disability v3.1510 USP7 Sarah Leigh commented on gene: USP7
Intellectual disability v3.1510 TRPM3 Sarah Leigh commented on gene: TRPM3
Intellectual disability v3.1510 NR4A2 Sarah Leigh commented on gene: NR4A2
Intellectual disability v3.1510 CEP104 Sarah Leigh commented on gene: CEP104
Intellectual disability v3.1510 C2CD3 Sarah Leigh commented on gene: C2CD3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 ATP1A2 Sarah Leigh commented on gene: ATP1A2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 ABAT Sarah Leigh commented on gene: ABAT: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 TCTN3 Sarah Leigh commented on gene: TCTN3
Intellectual disability v3.1510 TOR1A Sarah Leigh commented on gene: TOR1A
Intellectual disability v3.1510 TANC2 Sarah Leigh commented on gene: TANC2
Intellectual disability v3.1510 ADAM22 Sarah Leigh commented on gene: ADAM22: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1510 UBR7 Sarah Leigh commented on gene: UBR7
Intellectual disability v3.1510 VPS4A Sarah Leigh commented on gene: VPS4A
Intellectual disability v3.1510 RNU7-1 Sarah Leigh commented on gene: RNU7-1
Intellectual disability v3.1510 PPIL1 Sarah Leigh commented on gene: PPIL1
Intellectual disability v3.1510 FBRSL1 Sarah Leigh commented on gene: FBRSL1
Intellectual disability v3.1509 CACNB4 Arina Puzriakova Source NHS GMS was added to CACNB4.
Intellectual disability v3.1509 CNOT3 Arina Puzriakova Source NHS GMS was added to CNOT3.
Intellectual disability v3.1509 ZNF335 Arina Puzriakova Source NHS GMS was added to ZNF335.
Intellectual disability v3.1509 MFSD2A Arina Puzriakova Source NHS GMS was added to MFSD2A.
Intellectual disability v3.1509 MAPRE2 Arina Puzriakova Source NHS GMS was added to MAPRE2.
Intellectual disability v3.1509 SCN1B Arina Puzriakova Source NHS GMS was added to SCN1B.
Intellectual disability v3.1509 SCAMP5 Arina Puzriakova Source NHS GMS was added to SCAMP5.
Intellectual disability v3.1509 KAT8 Arina Puzriakova Source NHS GMS was added to KAT8.
Intellectual disability v3.1509 GPC4 Arina Puzriakova Source NHS GMS was added to GPC4.
Intellectual disability v3.1509 KDM6B Arina Puzriakova Source NHS GMS was added to KDM6B.
Intellectual disability v3.1509 CDK19 Arina Puzriakova Source NHS GMS was added to CDK19.
Intellectual disability v3.1509 EXT2 Arina Puzriakova Source NHS GMS was added to EXT2.
Intellectual disability v3.1509 TOR1A Arina Puzriakova Source NHS GMS was added to TOR1A.
Intellectual disability v3.1509 ABCA2 Arina Puzriakova Source Expert Review Green was added to ABCA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 PIGH Arina Puzriakova Source Expert Review Green was added to PIGH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 METTL5 Arina Puzriakova Source Expert Review Green was added to METTL5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 LMBRD2 Arina Puzriakova Source Expert Review Green was added to LMBRD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 LIAS Arina Puzriakova Source Expert Review Green was added to LIAS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 CSNK1G1 Arina Puzriakova Source Expert Review Green was added to CSNK1G1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 AGO2 Arina Puzriakova Source Expert Review Green was added to AGO2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 PNPT1 Arina Puzriakova Source Expert Review Green was added to PNPT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 SCO1 Arina Puzriakova Source Expert Review Red was added to SCO1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1509 FA2H Arina Puzriakova Source Expert Review Red was added to FA2H.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1509 COX6B1 Arina Puzriakova Source Expert Review Red was added to COX6B1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1509 MPI Arina Puzriakova Source Expert Review Red was added to MPI.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1509 VAMP1 Arina Puzriakova Source Expert Review Red was added to VAMP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1509 TRIM32 Arina Puzriakova Source Expert Review Red was added to TRIM32.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1509 MGP Arina Puzriakova Source Expert Review Red was added to MGP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1509 LGI4 Arina Puzriakova Source Expert Review Red was added to LGI4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1509 HYLS1 Arina Puzriakova Source Expert Review Red was added to HYLS1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1509 HADH Arina Puzriakova Source Expert Review Red was added to HADH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1509 FLVCR1 Arina Puzriakova Source Expert Review Red was added to FLVCR1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1509 ATL1 Arina Puzriakova Source Expert Review Red was added to ATL1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1509 ANKH Arina Puzriakova Source Expert Review Red was added to ANKH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1509 AFG3L2 Arina Puzriakova Source Expert Review Red was added to AFG3L2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1509 KCNC3 Arina Puzriakova Source Expert Review Amber was added to KCNC3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Intellectual disability v3.1509 ALKBH8 Arina Puzriakova Source Expert Review Amber was added to ALKBH8.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Intellectual disability v3.1509 SOX3 Arina Puzriakova Source Expert Review Amber was added to SOX3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Intellectual disability v3.1509 PRKD1 Arina Puzriakova Source Expert Review Amber was added to PRKD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Intellectual disability v3.1509 GPSM2 Arina Puzriakova Source Expert Review Amber was added to GPSM2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Intellectual disability v3.1509 DDOST Arina Puzriakova Source Expert Review Amber was added to DDOST.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Intellectual disability v3.1509 CYP2U1 Arina Puzriakova Source Expert Review Amber was added to CYP2U1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Intellectual disability v3.1509 AGPS Arina Puzriakova Source Expert Review Amber was added to AGPS.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Intellectual disability v3.1509 TMEM106B Arina Puzriakova Source Expert Review Green was added to TMEM106B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 NEMF Arina Puzriakova Source Expert Review Green was added to NEMF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 MPP5 Arina Puzriakova Source Expert Review Green was added to MPP5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 MAPK1 Arina Puzriakova Source Expert Review Green was added to MAPK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 LMNB1 Arina Puzriakova Source Expert Review Green was added to LMNB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 KIF21B Arina Puzriakova Source Expert Review Green was added to KIF21B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 JARID2 Arina Puzriakova Source Expert Review Green was added to JARID2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 FAM50A Arina Puzriakova Source Expert Review Green was added to FAM50A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 CEP120 Arina Puzriakova Source Expert Review Green was added to CEP120.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 ZNF526 Arina Puzriakova Source Expert Review Green was added to ZNF526.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 TFE3 Arina Puzriakova Source Expert Review Green was added to TFE3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 PIGQ Arina Puzriakova Source Expert Review Green was added to PIGQ.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 KAT5 Arina Puzriakova Source Expert Review Green was added to KAT5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 ZNF335 Arina Puzriakova Source Expert Review Green was added to ZNF335.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 ZIC1 Arina Puzriakova Source Expert Review Green was added to ZIC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 SETD1A Arina Puzriakova Source Expert Review Green was added to SETD1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 PET100 Arina Puzriakova Source Expert Review Green was added to PET100.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 NUDT2 Arina Puzriakova Source Expert Review Green was added to NUDT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 MFSD2A Arina Puzriakova Source Expert Review Green was added to MFSD2A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 MAPRE2 Arina Puzriakova Source Expert Review Green was added to MAPRE2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 CDH2 Arina Puzriakova Source Expert Review Green was added to CDH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 SMG8 Arina Puzriakova Source Expert Review Green was added to SMG8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 LSS Arina Puzriakova Source Expert Review Green was added to LSS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 KCNMA1 Arina Puzriakova Source Expert Review Green was added to KCNMA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 H3F3B Arina Puzriakova Source Expert Review Green was added to H3F3B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 H3F3A Arina Puzriakova Source Expert Review Green was added to H3F3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 KDM4B Arina Puzriakova Source Expert Review Green was added to KDM4B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 BICRA Arina Puzriakova Source Expert Review Green was added to BICRA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 ZFHX4 Arina Puzriakova Source Expert Review Green was added to ZFHX4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 SHMT2 Arina Puzriakova Source Expert Review Green was added to SHMT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 NARS Arina Puzriakova Source Expert Review Green was added to NARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 MORC2 Arina Puzriakova Source Expert Review Green was added to MORC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 LARS Arina Puzriakova Source Expert Review Green was added to LARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 POLR1C Arina Puzriakova Source Expert Review Green was added to POLR1C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 NUS1 Arina Puzriakova Source Expert Review Green was added to NUS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 PUM1 Arina Puzriakova Source Expert Review Green was added to PUM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 RALGAPA1 Arina Puzriakova Source Expert Review Green was added to RALGAPA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 RARS Arina Puzriakova Source Expert Review Green was added to RARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 CEP55 Arina Puzriakova Source Expert Review Green was added to CEP55.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 CTU2 Arina Puzriakova Source Expert Review Green was added to CTU2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 TRAPPC4 Arina Puzriakova Source Expert Review Green was added to TRAPPC4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 UGP2 Arina Puzriakova Source Expert Review Green was added to UGP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 CXorf56 Arina Puzriakova Source Expert Review Green was added to CXorf56.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 KAT8 Arina Puzriakova Source Expert Review Green was added to KAT8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 SLC5A6 Arina Puzriakova Source Expert Review Green was added to SLC5A6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 SNX27 Arina Puzriakova Source Expert Review Green was added to SNX27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 WNT1 Arina Puzriakova Source Expert Review Green was added to WNT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 YIF1B Arina Puzriakova Source Expert Review Green was added to YIF1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 VARS2 Arina Puzriakova Source Expert Review Green was added to VARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 UGDH Arina Puzriakova Source Expert Review Green was added to UGDH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 TTC5 Arina Puzriakova Source Expert Review Green was added to TTC5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 TRNT1 Arina Puzriakova Source Expert Review Green was added to TRNT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 TNRC6B Arina Puzriakova Source Expert Review Green was added to TNRC6B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 TET3 Arina Puzriakova Source Expert Review Green was added to TET3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 TENM3 Arina Puzriakova Source Expert Review Green was added to TENM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 TASP1 Arina Puzriakova Source Expert Review Green was added to TASP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 SUZ12 Arina Puzriakova Source Expert Review Green was added to SUZ12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 SUPT16H Arina Puzriakova Source Expert Review Green was added to SUPT16H.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 SPTBN4 Arina Puzriakova Source Expert Review Green was added to SPTBN4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 SPOP Arina Puzriakova Source Expert Review Green was added to SPOP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 SOX6 Arina Puzriakova Source Expert Review Green was added to SOX6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 SLC1A1 Arina Puzriakova Source Expert Review Green was added to SLC1A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 SLC12A2 Arina Puzriakova Source Expert Review Green was added to SLC12A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 SFXN4 Arina Puzriakova Source Expert Review Green was added to SFXN4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 SBF1 Arina Puzriakova Source Expert Review Green was added to SBF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 SARS2 Arina Puzriakova Source Expert Review Green was added to SARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 RSRC1 Arina Puzriakova Source Expert Review Green was added to RSRC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 PPP1R12A Arina Puzriakova Source Expert Review Green was added to PPP1R12A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 PIGS Arina Puzriakova Source Expert Review Green was added to PIGS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 PIGK Arina Puzriakova Source Expert Review Green was added to PIGK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 PIBF1 Arina Puzriakova Source Expert Review Green was added to PIBF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 PDHB Arina Puzriakova Source Expert Review Green was added to PDHB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 OXR1 Arina Puzriakova Source Expert Review Green was added to OXR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 NRROS Arina Puzriakova Source Expert Review Green was added to NRROS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 NOVA2 Arina Puzriakova Source Expert Review Green was added to NOVA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 NDUFA2 Arina Puzriakova Source Expert Review Green was added to NDUFA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 MTHFS Arina Puzriakova Source Expert Review Green was added to MTHFS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 MN1 Arina Puzriakova Source Expert Review Green was added to MN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 LYRM7 Arina Puzriakova Source Expert Review Green was added to LYRM7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 LIPT1 Arina Puzriakova Source Expert Review Green was added to LIPT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 KLF7 Arina Puzriakova Source Expert Review Green was added to KLF7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 KCNN3 Arina Puzriakova Source Expert Review Green was added to KCNN3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 HNRNPH1 Arina Puzriakova Source Expert Review Green was added to HNRNPH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 GPC4 Arina Puzriakova Source Expert Review Green was added to GPC4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 GALNT2 Arina Puzriakova Source Expert Review Green was added to GALNT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 EIF2AK2 Arina Puzriakova Source Expert Review Green was added to EIF2AK2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 EARS2 Arina Puzriakova Source Expert Review Green was added to EARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 DNM1L Arina Puzriakova Source Expert Review Green was added to DNM1L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 DHX37 Arina Puzriakova Source Expert Review Green was added to DHX37.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 CTNND1 Arina Puzriakova Source Expert Review Green was added to CTNND1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 CNTNAP1 Arina Puzriakova Source Expert Review Green was added to CNTNAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 B9D2 Arina Puzriakova Source Expert Review Green was added to B9D2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 ATAD1 Arina Puzriakova Source Expert Review Green was added to ATAD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 ADD3 Arina Puzriakova Source Expert Review Green was added to ADD3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 ADARB1 Arina Puzriakova Source Expert Review Green was added to ADARB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 DLL1 Arina Puzriakova Source Expert Review Green was added to DLL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 RNF113A Arina Puzriakova Source Expert Review Green was added to RNF113A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 GAD1 Arina Puzriakova Source Expert Review Green was added to GAD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 ALG9 Arina Puzriakova Source Expert Review Green was added to ALG9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 STT3A Arina Puzriakova Source Expert Review Green was added to STT3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 NEDD4L Arina Puzriakova Source Expert Review Green was added to NEDD4L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 MADD Arina Puzriakova Source Expert Review Green was added to MADD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 KDM6B Arina Puzriakova Source Expert Review Green was added to KDM6B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 HERC2 Arina Puzriakova Source Expert Review Green was added to HERC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 CDK19 Arina Puzriakova Source Expert Review Green was added to CDK19.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 AHCY Arina Puzriakova Source Expert Review Green was added to AHCY.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 PIGP Arina Puzriakova Source Expert Review Green was added to PIGP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 RNF13 Arina Puzriakova Source Expert Review Green was added to RNF13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 EXT2 Arina Puzriakova Source Expert Review Green was added to EXT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 PTRHD1 Arina Puzriakova Source Expert Review Green was added to PTRHD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 XYLT1 Arina Puzriakova Source Expert Review Green was added to XYLT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 WDFY3 Arina Puzriakova Source Expert Review Green was added to WDFY3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 USP7 Arina Puzriakova Source Expert Review Green was added to USP7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 TRPM3 Arina Puzriakova Source Expert Review Green was added to TRPM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 NR4A2 Arina Puzriakova Source Expert Review Green was added to NR4A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 CEP104 Arina Puzriakova Source Expert Review Green was added to CEP104.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 C2CD3 Arina Puzriakova Source Expert Review Green was added to C2CD3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 ATP1A2 Arina Puzriakova Source Expert Review Green was added to ATP1A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 ABAT Arina Puzriakova Source Expert Review Green was added to ABAT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 TCTN3 Arina Puzriakova Source Expert Review Green was added to TCTN3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 TOR1A Arina Puzriakova Source Expert Review Green was added to TOR1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 TANC2 Arina Puzriakova Source Expert Review Green was added to TANC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 ADAM22 Arina Puzriakova Source Expert Review Green was added to ADAM22.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 UBR7 Arina Puzriakova Source Expert Review Green was added to UBR7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 VPS4A Arina Puzriakova Source Expert Review Green was added to VPS4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 RNU7-1 Arina Puzriakova Source Expert Review Green was added to RNU7-1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 PPIL1 Arina Puzriakova Source Expert Review Green was added to PPIL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1509 FBRSL1 Arina Puzriakova Source Expert Review Green was added to FBRSL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare genetic inflammatory skin disorders v1.53 ECM1 Arina Puzriakova Tag Q4_21_rating was removed from gene: ECM1.
Tag Q4_21_NHS_review was removed from gene: ECM1.
Rare genetic inflammatory skin disorders v1.53 ECM1 Arina Puzriakova commented on gene: ECM1
Rare genetic inflammatory skin disorders v1.52 ECM1 Arina Puzriakova Source Expert Review Green was added to ECM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Pigmentary skin disorders v1.43 USP9X Arina Puzriakova Tag Q4_21_rating was removed from gene: USP9X.
Tag Q4_21_NHS_review was removed from gene: USP9X.
Pigmentary skin disorders v1.43 TFE3 Arina Puzriakova Tag Q4_21_rating was removed from gene: TFE3.
Tag Q4_21_NHS_review was removed from gene: TFE3.
Pigmentary skin disorders v1.43 SMARCAL1 Arina Puzriakova Tag Q4_21_rating was removed from gene: SMARCAL1.
Tag Q4_21_NHS_review was removed from gene: SMARCAL1.
Pigmentary skin disorders v1.43 PHF6 Arina Puzriakova Tag Q4_21_rating was removed from gene: PHF6.
Tag Q4_21_NHS_review was removed from gene: PHF6.
Pigmentary skin disorders v1.43 NDUFB11 Arina Puzriakova Tag Q4_21_expert_review was removed from gene: NDUFB11.
Tag Q4_21_NHS_review was removed from gene: NDUFB11.
Pigmentary skin disorders v1.43 HCCS Arina Puzriakova Tag Q4_21_rating was removed from gene: HCCS.
Tag Q4_21_NHS_review was removed from gene: HCCS.
Pigmentary skin disorders v1.43 FLNA Arina Puzriakova Classified gene: FLNA as Amber List (moderate evidence)
Pigmentary skin disorders v1.43 FLNA Arina Puzriakova Gene: flna has been classified as Amber List (Moderate Evidence).
Pigmentary skin disorders v1.42 FLNA Arina Puzriakova Tag Q3_21_expert_review was removed from gene: FLNA.
Pigmentary skin disorders v1.42 DDX3X Arina Puzriakova Tag Q4_21_rating was removed from gene: DDX3X.
Tag Q4_21_NHS_review was removed from gene: DDX3X.
Pigmentary skin disorders v1.42 COX7B Arina Puzriakova Tag Q4_21_rating was removed from gene: COX7B.
Tag Q4_21_NHS_review was removed from gene: COX7B.
Pigmentary skin disorders v1.42 USP9X Arina Puzriakova commented on gene: USP9X
Pigmentary skin disorders v1.42 TFE3 Arina Puzriakova commented on gene: TFE3
Pigmentary skin disorders v1.42 SMARCAL1 Arina Puzriakova commented on gene: SMARCAL1
Pigmentary skin disorders v1.42 PHF6 Arina Puzriakova commented on gene: PHF6
Pigmentary skin disorders v1.42 NDUFB11 Arina Puzriakova commented on gene: NDUFB11
Pigmentary skin disorders v1.42 HCCS Arina Puzriakova commented on gene: HCCS
Pigmentary skin disorders v1.42 FLNA Arina Puzriakova commented on gene: FLNA: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. It has been agreed that this gene should remain amber at this time.
Pigmentary skin disorders v1.42 DDX3X Arina Puzriakova commented on gene: DDX3X
Pigmentary skin disorders v1.42 COX7B Arina Puzriakova commented on gene: COX7B
Pigmentary skin disorders v1.41 USP9X Arina Puzriakova Source Expert Review Green was added to USP9X.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Pigmentary skin disorders v1.41 TFE3 Arina Puzriakova Source Expert Review Green was added to TFE3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Pigmentary skin disorders v1.41 SMARCAL1 Arina Puzriakova Source Expert Review Green was added to SMARCAL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Pigmentary skin disorders v1.41 PHF6 Arina Puzriakova Source Expert Review Green was added to PHF6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Pigmentary skin disorders v1.41 HCCS Arina Puzriakova Source Expert Review Green was added to HCCS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Pigmentary skin disorders v1.41 DDX3X Arina Puzriakova Source Expert Review Green was added to DDX3X.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Pigmentary skin disorders v1.41 COX7B Arina Puzriakova Source Expert Review Green was added to COX7B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mosaic skin disorders - Deep sequencing v1.22 PTPN11 Arina Puzriakova Tag Q4_21_rating was removed from gene: PTPN11.
Tag Q4_21_NHS_review was removed from gene: PTPN11.
Mosaic skin disorders - Deep sequencing v1.22 PORCN Arina Puzriakova Tag Q4_21_rating was removed from gene: PORCN.
Tag Q4_21_NHS_review was removed from gene: PORCN.
Mosaic skin disorders - Deep sequencing v1.22 BRAF Arina Puzriakova Tag Q4_21_rating was removed from gene: BRAF.
Tag Q4_21_NHS_review was removed from gene: BRAF.
Mosaic skin disorders - Deep sequencing v1.22 PTPN11 Arina Puzriakova commented on gene: PTPN11
Mosaic skin disorders - Deep sequencing v1.22 PORCN Arina Puzriakova commented on gene: PORCN
Mosaic skin disorders - Deep sequencing v1.22 BRAF Arina Puzriakova commented on gene: BRAF
Mosaic skin disorders - Deep sequencing v1.21 PTPN11 Arina Puzriakova Source Expert Review Green was added to PTPN11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mosaic skin disorders - Deep sequencing v1.21 PORCN Arina Puzriakova Source Expert Review Green was added to PORCN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mosaic skin disorders - Deep sequencing v1.21 BRAF Arina Puzriakova Source Expert Review Green was added to BRAF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Leukodystrophy, adult onset v1.40 LIG3 Eleanor Williams Tag Q2_21_rating was removed from gene: LIG3.
Leukodystrophy, adult onset v1.40 EPRS Eleanor Williams Tag Q2_21_rating was removed from gene: EPRS.
Leukodystrophy, adult onset v1.40 EARS2 Eleanor Williams Tag Q4_21_expert_review was removed from gene: EARS2.
Leukodystrophy, adult onset v1.40 CYP7B1 Eleanor Williams Tag Q2_21_expert_review was removed from gene: CYP7B1.
Leukodystrophy, adult onset v1.40 CTC1 Eleanor Williams Tag Q3_21_expert_review was removed from gene: CTC1.
Leukodystrophy, adult onset v1.40 AUH Eleanor Williams Tag Q2_21_rating was removed from gene: AUH.
Leukodystrophy, adult onset v1.40 LIG3 Sarah Leigh commented on gene: LIG3
Leukodystrophy, adult onset v1.40 EPRS Sarah Leigh commented on gene: EPRS
Leukodystrophy, adult onset v1.40 EARS2 Sarah Leigh commented on gene: EARS2
Leukodystrophy, adult onset v1.40 CYP7B1 Sarah Leigh commented on gene: CYP7B1
Leukodystrophy, adult onset v1.40 CTC1 Sarah Leigh commented on gene: CTC1
Leukodystrophy, adult onset v1.40 AUH Sarah Leigh commented on gene: AUH
Leukodystrophy, adult onset v1.39 LIG3 Eleanor Williams Source Expert Review Green was added to LIG3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Leukodystrophy, adult onset v1.39 EPRS Eleanor Williams Source Expert Review Green was added to EPRS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Leukodystrophy, adult onset v1.39 EARS2 Eleanor Williams Source Expert Review Amber was added to EARS2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Leukodystrophy, adult onset v1.39 CTC1 Eleanor Williams Source Expert Review Amber was added to CTC1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Leukodystrophy, adult onset v1.39 AUH Eleanor Williams Source Expert Review Green was added to AUH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ichthyosis and erythrokeratoderma v1.71 ASPRV1 Arina Puzriakova Tag Q2_21_rating was removed from gene: ASPRV1.
Tag Q4_21_NHS_review was removed from gene: ASPRV1.
Ichthyosis and erythrokeratoderma v1.71 ALDH3A2 Arina Puzriakova Tag Q3_21_rating was removed from gene: ALDH3A2.
Tag Q3_21_NHS_review was removed from gene: ALDH3A2.
Ichthyosis and erythrokeratoderma v1.71 ASPRV1 Arina Puzriakova commented on gene: ASPRV1
Ichthyosis and erythrokeratoderma v1.71 ALDH3A2 Arina Puzriakova commented on gene: ALDH3A2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Ichthyosis and erythrokeratoderma v1.70 ASPRV1 Arina Puzriakova Source Expert Review Green was added to ASPRV1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ichthyosis and erythrokeratoderma v1.70 ALDH3A2 Arina Puzriakova Source Expert Review Green was added to ALDH3A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - childhood onset v1.222 TWNK Arina Puzriakova commented on gene: TWNK
White matter disorders and cerebral calcification - childhood onset v1.222 SLC25A4 Arina Puzriakova commented on gene: SLC25A4
White matter disorders and cerebral calcification - childhood onset v1.221 TWNK Arina Puzriakova Mode of inheritance for gene TWNK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - childhood onset v1.221 SLC25A4 Arina Puzriakova Mode of inheritance for gene SLC25A4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Stickler syndrome v2.26 COL11A2 Arina Puzriakova commented on gene: COL11A2
Stickler syndrome v2.25 COL11A2 Arina Puzriakova Mode of inheritance for gene COL11A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v1.69 DNM2 Arina Puzriakova commented on gene: DNM2
Possible mitochondrial disorder, nuclear genes v1.68 DNM2 Arina Puzriakova Mode of inheritance for gene DNM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v1.6 DNM2 Arina Puzriakova commented on gene: DNM2
Mitochondrial DNA maintenance disorder v1.5 DNM2 Arina Puzriakova Mode of inheritance for gene DNM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v2.88 DNM2 Arina Puzriakova commented on gene: DNM2
Mitochondrial disorders v2.87 DNM2 Arina Puzriakova Mode of inheritance for gene DNM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.37 TTN Arina Puzriakova commented on gene: TTN
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.37 SYNE1 Arina Puzriakova commented on gene: SYNE1
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.36 TTN Arina Puzriakova Mode of inheritance for gene TTN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.36 SYNE1 Arina Puzriakova Mode of inheritance for gene SYNE1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v3.1508 MAT1A Arina Puzriakova commented on gene: MAT1A
Intellectual disability v3.1508 GJC2 Arina Puzriakova commented on gene: GJC2
Intellectual disability v3.1507 MAT1A Arina Puzriakova Mode of inheritance for gene MAT1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v3.1507 GJC2 Arina Puzriakova Mode of inheritance for gene GJC2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v2.225 EXT1 Arina Puzriakova commented on gene: EXT1
Likely inborn error of metabolism v2.225 DHTKD1 Arina Puzriakova commented on gene: DHTKD1
Likely inborn error of metabolism v2.224 EXT1 Arina Puzriakova Mode of inheritance for gene EXT1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Likely inborn error of metabolism v2.224 DHTKD1 Arina Puzriakova Mode of inheritance for gene DHTKD1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Distal myopathies v1.41 TTN Arina Puzriakova commented on gene: TTN
Distal myopathies v1.40 TTN Arina Puzriakova Mode of inheritance for gene TTN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v2.72 LMNA Arina Puzriakova commented on gene: LMNA
Congenital myopathy v2.71 LMNA Arina Puzriakova Mode of inheritance for gene LMNA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital muscular dystrophy v2.23 LMNA Arina Puzriakova commented on gene: LMNA
Congenital muscular dystrophy v2.22 LMNA Arina Puzriakova Mode of inheritance for gene LMNA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital disorders of glycosylation v2.82 EXT1 Arina Puzriakova commented on gene: EXT1
Congenital disorders of glycosylation v2.81 EXT1 Arina Puzriakova Mode of inheritance for gene EXT1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bilateral congenital or childhood onset cataracts v2.102 COL11A1 Arina Puzriakova commented on gene: COL11A1
Bilateral congenital or childhood onset cataracts v2.101 COL11A1 Arina Puzriakova Mode of inheritance for gene COL11A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v3.152 PIEZO2 Arina Puzriakova commented on gene: PIEZO2
Arthrogryposis v3.152 FGFR2 Arina Puzriakova commented on gene: FGFR2
Arthrogryposis v3.152 DNM2 Arina Puzriakova commented on gene: DNM2
Arthrogryposis v3.151 PIEZO2 Arina Puzriakova Mode of inheritance for gene PIEZO2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v3.151 FGFR2 Arina Puzriakova Mode of inheritance for gene FGFR2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arthrogryposis v3.151 DNM2 Arina Puzriakova Mode of inheritance for gene DNM2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Leukodystrophy, adult onset v1.38 LARS2 Eleanor Williams Tag for-review was removed from gene: LARS2.
Leukodystrophy, adult onset v1.38 LARS2 Sarah Leigh commented on gene: LARS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Leukodystrophy, adult onset v1.37 LARS2 Eleanor Williams Source Expert Review Green was added to LARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rhabdomyolysis and metabolic muscle disorders v1.78 TANGO2 Eleanor Williams Phenotypes for gene: TANGO2 were changed from Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878
Rhabdomyolysis and metabolic muscle disorders v1.77 TANGO2 Eleanor Williams Tag for-review was removed from gene: TANGO2.
Rhabdomyolysis and metabolic muscle disorders v1.77 TANGO2 Sarah Leigh commented on gene: TANGO2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Rhabdomyolysis and metabolic muscle disorders v1.76 TANGO2 Eleanor Williams Source Expert Review Green was added to TANGO2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paroxysmal central nervous system disorders v1.37 CSNK1D Eleanor Williams Phenotypes for gene: CSNK1D were changed from Advanced sleep-phase syndrome, familial, 2, 615224 to Advanced sleep-phase syndrome, familial, 2, OMIM:615224
Paroxysmal central nervous system disorders v1.36 CSNK1D Eleanor Williams Tag for-review was removed from gene: CSNK1D.
Paroxysmal central nervous system disorders v1.36 CNBP Sarah Leigh commented on gene: CNBP
Paroxysmal central nervous system disorders v1.36 CSNK1D Sarah Leigh commented on gene: CSNK1D: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paroxysmal central nervous system disorders v1.35 CNBP Eleanor Williams Mode of inheritance for gene CNBP was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal central nervous system disorders v1.35 CSNK1D Eleanor Williams Source Expert Review Amber was added to CSNK1D.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Neurological ciliopathies v1.29 TMEM218 Eleanor Williams Tag Q4_21_rating was removed from gene: TMEM218.
Tag Q4_21_NHS_review was removed from gene: TMEM218.
Neurological ciliopathies v1.29 TMEM218 Sarah Leigh commented on gene: TMEM218
Neurological ciliopathies v1.28 TMEM218 Eleanor Williams Source Expert Review Green was added to TMEM218.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurological ciliopathies v1.27 PIBF1 Eleanor Williams Phenotypes for gene: PIBF1 were changed from Joubert syndrome; ataxia; vermis hypoplasia; developmental delay; thick superior cerebellar peduncles; superior cerebellar dysplasia to Joubert syndrome 33, OMIM:617767; ataxia; vermis hypoplasia; developmental delay; thick superior cerebellar peduncles; superior cerebellar dysplasia
Neurological ciliopathies v1.26 PIBF1 Eleanor Williams Tag for-review was removed from gene: PIBF1.
Neurological ciliopathies v1.26 PIBF1 Sarah Leigh commented on gene: PIBF1
Neurological ciliopathies v1.25 PIBF1 Eleanor Williams Source Expert Review Green was added to PIBF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia v2.22 GNA11 Arina Puzriakova Classified gene: GNA11 as Green List (high evidence)
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia v2.22 GNA11 Arina Puzriakova Gene: gna11 has been classified as Green List (High Evidence).
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia v2.21 GNA11 Arina Puzriakova gene: GNA11 was added
gene: GNA11 was added to Familial hyperparathyroidism. Sources: NHS GMS
Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNA11 were set to 23222959; 26729423
Phenotypes for gene: GNA11 were set to Hypocalcemia, autosomal dominant 2, OMIM:615361; Hypocalciuric hypercalcemia, type II, OMIM:145981
Review for gene: GNA11 was set to GREEN
Added comment: This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green. GNA11 pathogenic variants are causative of FHH type 2 (much rarer than FHH1 and FHH3)
Sources: NHS GMS
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia v2.20 CASR Arina Puzriakova Publications for gene: CASR were set to 15292296; 7916660; 9253359; 8675635; 25162666; 28740527
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia v2.19 CASR Arina Puzriakova Phenotypes for gene: CASR were changed from Hyperparathyroidism, neonatal (239200); Hypocalcemia, autosomal dominant (601198); Familial isolated hyperparathyroidism; FHH1 to Hyperparathyroidism, neonatal, OMIM:239200; Hypocalcemia, autosomal dominant, OMIM:601198; Hypocalcemia, autosomal dominant, with Bartter syndrome, OMIM:601198; Hypocalciuric hypercalcemia, type I, OMIM:145980; Familial isolated hyperparathyroidism; FHH1
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia v2.18 AP2S1 Arina Puzriakova Publications for gene: AP2S1 were set to 25162666; 28740527; 26963950
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia v2.17 AP2S1 Arina Puzriakova Phenotypes for gene: AP2S1 were changed from Hypocalciuric hypercalcemia, type III, 600740 to Hypocalciuric hypercalcemia, type III, OMIM:600740
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia v2.16 AP2S1 Arina Puzriakova reviewed gene: AP2S1: Rating: ; Mode of pathogenicity: None; Publications: 33729479; Phenotypes: Hypocalciuric hypercalcemia, type III, OMIM:600740; Mode of inheritance: None
Malformations of cortical development v2.136 CRADD Eleanor Williams Tag Q3_21_rating was removed from gene: CRADD.
Malformations of cortical development v2.136 CRADD Sarah Leigh commented on gene: CRADD
Malformations of cortical development v2.135 CRADD Eleanor Williams Source Expert Review Green was added to CRADD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurodegenerative disorders, adult onset v2.261 HTT_CAG Arina Puzriakova Classified STR: HTT_CAG as Green List (high evidence)
Neurodegenerative disorders, adult onset v2.261 HTT_CAG Arina Puzriakova Str: htt_cag has been classified as Green List (High Evidence).
Neurodegenerative disorders, adult onset v2.260 HTT_CAG Arina Puzriakova Tag for-review was removed from STR: HTT_CAG.
Tag curated_removed was removed from STR: HTT_CAG.
Neurodegenerative disorders, adult onset v2.260 HTT_CAG Arina Puzriakova edited their review of STR: HTT_CAG: Changed rating: GREEN
Neurodegenerative disorders, adult onset v2.260 HTT_CAG Arina Puzriakova commented on STR: HTT_CAG: After NHS Genomic Medicine Service consideration, this STR has been promoted back to green on the R58 panel.
Malformations of cortical development v2.134 MAP1B Eleanor Williams Phenotypes for gene: MAP1B were changed from Periventricular nodular heterotopia 9, MIM# 618918 to Periventricular nodular heterotopia 9, OMIM:618918
Malformations of cortical development v2.133 MAP1B Eleanor Williams Tag for-review was removed from gene: MAP1B.
Malformations of cortical development v2.133 H3F3A Eleanor Williams Tag for-review was removed from gene: H3F3A.
Malformations of cortical development v2.133 CDH2 Eleanor Williams Tag for-review was removed from gene: CDH2.
Malformations of cortical development v2.133 LAMA2 Eleanor Williams Tag for-review was removed from gene: LAMA2.
Malformations of cortical development v2.133 CASK Eleanor Williams Tag for-review was removed from gene: CASK.
Malformations of cortical development v2.133 VLDLR Eleanor Williams Tag for-review was removed from gene: VLDLR.
Malformations of cortical development v2.133 ATP1A2 Eleanor Williams Tag for-review was removed from gene: ATP1A2.
Malformations of cortical development v2.133 CEP85L Eleanor Williams Tag for-review was removed from gene: CEP85L.
Malformations of cortical development v2.133 TMX2 Eleanor Williams Tag for-review was removed from gene: TMX2.
Malformations of cortical development v2.133 TUBGCP2 Eleanor Williams Phenotypes for gene: TUBGCP2 were changed from Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, 618737 to Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737
Malformations of cortical development v2.132 TUBGCP2 Eleanor Williams Tag for-review was removed from gene: TUBGCP2.
Malformations of cortical development v2.132 PPP1R12A Eleanor Williams Phenotypes for gene: PPP1R12A were changed from Genitourinary and/or/brain malformation syndrome, 618820 to Genitourinary and/or/brain malformation syndrome, OMIM:618820
Malformations of cortical development v2.131 PPP1R12A Eleanor Williams Tag for-review was removed from gene: PPP1R12A.
Malformations of cortical development v2.131 MN1 Eleanor Williams Tag for-review was removed from gene: MN1.
Malformations of cortical development v2.131 SNAP29 Eleanor Williams Tag for-review was removed from gene: SNAP29.
Malformations of cortical development v2.131 APC2 Eleanor Williams Tag for-review was removed from gene: APC2.
Malformations of cortical development v2.131 MAP1B Sarah Leigh commented on gene: MAP1B
Malformations of cortical development v2.131 H3F3A Sarah Leigh commented on gene: H3F3A
Malformations of cortical development v2.131 CDH2 Sarah Leigh commented on gene: CDH2
Malformations of cortical development v2.131 LAMA2 Sarah Leigh commented on gene: LAMA2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Malformations of cortical development v2.131 CASK Sarah Leigh commented on gene: CASK: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Malformations of cortical development v2.131 VLDLR Sarah Leigh commented on gene: VLDLR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Malformations of cortical development v2.131 ATP1A2 Sarah Leigh commented on gene: ATP1A2
Malformations of cortical development v2.131 CEP85L Sarah Leigh commented on gene: CEP85L
Malformations of cortical development v2.131 TMX2 Sarah Leigh commented on gene: TMX2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Malformations of cortical development v2.131 TUBGCP2 Sarah Leigh commented on gene: TUBGCP2
Malformations of cortical development v2.131 PPP1R12A Sarah Leigh commented on gene: PPP1R12A
Malformations of cortical development v2.131 MN1 Sarah Leigh commented on gene: MN1
Malformations of cortical development v2.131 SNAP29 Sarah Leigh commented on gene: SNAP29
Malformations of cortical development v2.131 APC2 Sarah Leigh commented on gene: APC2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Malformations of cortical development v2.130 MAP1B Eleanor Williams Source Expert Review Green was added to MAP1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v2.130 H3F3A Eleanor Williams Source Expert Review Green was added to H3F3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v2.130 CDH2 Eleanor Williams Source Expert Review Green was added to CDH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v2.130 LAMA2 Eleanor Williams Source Expert Review Green was added to LAMA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v2.130 CASK Eleanor Williams Source Expert Review Green was added to CASK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v2.130 VLDLR Eleanor Williams Source Expert Review Green was added to VLDLR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v2.130 ATP1A2 Eleanor Williams Source Expert Review Green was added to ATP1A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v2.130 CEP85L Eleanor Williams Source Expert Review Green was added to CEP85L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v2.130 TMX2 Eleanor Williams Source Expert Review Green was added to TMX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v2.130 TUBGCP2 Eleanor Williams Source Expert Review Green was added to TUBGCP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v2.130 PPP1R12A Eleanor Williams Source Expert Review Green was added to PPP1R12A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v2.130 MN1 Eleanor Williams Source Expert Review Green was added to MN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v2.130 SNAP29 Eleanor Williams Source Expert Review Green was added to SNAP29.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v2.130 APC2 Eleanor Williams Source Expert Review Green was added to APC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 TGFBR2 Arina Puzriakova reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 TGFBR1 Arina Puzriakova reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 TGFB1 Arina Puzriakova reviewed gene: TGFB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 STXBP3 Arina Puzriakova edited their review of gene: STXBP3: Added comment: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It was agreed that there is enough evidence to rate as green - sufficient number of cases presenting a relevant phenotype with some functional data. However, note that several families carried potentially contributory variants in other genes.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 SLCO2A1 Arina Puzriakova reviewed gene: SLCO2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 SLC9A3 Arina Puzriakova reviewed gene: SLC9A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 MASP2 Arina Puzriakova reviewed gene: MASP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 GUCY2C Arina Puzriakova reviewed gene: GUCY2C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 FERMT1 Arina Puzriakova reviewed gene: FERMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 COL7A1 Arina Puzriakova reviewed gene: COL7A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 ALPI Arina Puzriakova reviewed gene: ALPI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.535 TGFBR2 Arina Puzriakova Source Expert Review Green was added to TGFBR2.
Added phenotypes Loeys-Dietz syndrome 2, OMIM:610168 for gene: TGFBR2
Publications for gene: TGFBR2 were updated from 32086639; 32048120; 29392890 to 32048120; 29392890; 32086639; 24486179
Rating Changed from Red List (low evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.535 TGFBR1 Arina Puzriakova Source Expert Review Green was added to TGFBR1.
Added phenotypes Loeys-Dietz syndrome 1, OMIM:609192 for gene: TGFBR1
Publications for gene: TGFBR1 were updated from 32086639; 32048120; 29392890 to 32048120; 29392890; 32086639; 24486179
Rating Changed from Red List (low evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.535 TGFB1 Arina Puzriakova Source Expert Review Green was added to TGFB1.
Added phenotypes Inflammatory bowel disease, immunodeficiency, and encephalopathy, OMIM; 618213 for gene: TGFB1
Publications for gene: TGFB1 were updated from 32086639; 32048120; 29483653 to 32048120; 29483653; 32086639
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.535 STXBP3 Arina Puzriakova Source Expert Review Green was added to STXBP3.
Added phenotypes Syntaxin binding protein 3 defect for gene: STXBP3
Publications for gene: STXBP3 were updated from 33346580; https://doi.org/10.1053/j.gastro.2017.11.120; 33891011 to 33891011; 33346580; https://doi.org/10.1053/j.gastro.2017.11.120
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.535 SLCO2A1 Arina Puzriakova gene: SLCO2A1 was added
gene: SLCO2A1 was added to Primary immunodeficiency. Sources: Expert Review Green
Mode of inheritance for gene: SLCO2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLCO2A1 were set to 29313109
Phenotypes for gene: SLCO2A1 were set to Prostaglandin transporter deficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.535 SLC9A3 Arina Puzriakova Added phenotypes Diarrhea 8, secretory sodium, congenital, OMIM:616868 for gene: SLC9A3
Publications for gene: SLC9A3 were updated from 26358773; 33346580 to 26358773; 31276831; 30633106; 33346580
Primary immunodeficiency or monogenic inflammatory bowel disease v2.535 GUCY2C Arina Puzriakova Source Expert Review Green was added to GUCY2C.
Mode of inheritance for gene GUCY2C was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diarrhea 6, OMIM:614616 for gene: GUCY2C
Publications for gene: GUCY2C were updated from to 22436048; 31157858
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.535 FERMT1 Arina Puzriakova Source Expert Review Green was added to FERMT1.
Added phenotypes Kindler syndrome, OMIM:173650 for gene: FERMT1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.535 COL7A1 Arina Puzriakova Source Expert Review Green was added to COL7A1.
Mode of inheritance for gene COL7A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Inflammatory Bowel Disease for gene: COL7A1
Publications for gene: COL7A1 were updated from 18363753; 23517353; 32084423; 33346580 to 32084423; 33346580; 23517353; 11781296; 18363753; 27537055
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.535 ALPI Arina Puzriakova Source Expert Review Green was added to ALPI.
Added phenotypes Intestinal Alkaline Phosphatase deficiency for gene: ALPI
Publications for gene: ALPI were updated from 32086639; 32048120; 29567797 to 32048120; 29567797; 32086639
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.534 MASP2 Arina Puzriakova Phenotypes for gene: MASP2 were changed from Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity; Complement Deficiencies; MASP2 deficiency 613791 to MASP2 deficiency, OMIM:613791; Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity
Primary immunodeficiency or monogenic inflammatory bowel disease v2.533 IL21 Arina Puzriakova commented on gene: IL21
Primary immunodeficiency or monogenic inflammatory bowel disease v2.533 IL21 Arina Puzriakova Phenotypes for gene: IL21 were changed from Severe early onset colitis, recurrent sinopulmonary infections; Immunodeficiency, common variable, 11, 615767; Immunodeficiencies affecting cellular and humoral immunity to Immunodeficiency, common variable, 11 , OMIM:615767; Severe early onset colitis, recurrent sinopulmonary infections; Immunodeficiencies affecting cellular and humoral immunity
Unexplained young onset end-stage renal disease v1.32 TRIM8 Eleanor Williams Tag Q4_21_rating was removed from gene: TRIM8.
Tag Q4_21_NHS_review was removed from gene: TRIM8.
Unexplained young onset end-stage renal disease v1.32 TRIM8 Eleanor Williams commented on gene: TRIM8
Unexplained young onset end-stage renal disease v1.31 TRIM8 Eleanor Williams Source Expert Review Green was added to TRIM8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Unexplained young onset end-stage renal disease v1.30 VIPAS39 Eleanor Williams Phenotypes for gene: VIPAS39 were changed from Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 to Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404
Unexplained young onset end-stage renal disease v1.29 VIPAS39 Eleanor Williams Tag for-review was removed from gene: VIPAS39.
Unexplained young onset end-stage renal disease v1.29 CD151 Eleanor Williams commented on gene: CD151: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval. This change is from 'Unknown' to 'BIALLELIC, autosomal or pseudoautosomal'.
Unexplained young onset end-stage renal disease v1.29 VIPAS39 Eleanor Williams commented on gene: VIPAS39: The rating of this gene has been updated following NHS Genomic Medicine Service approval. The reviewers note a clear kidney involvement.
Unexplained young onset end-stage renal disease v1.28 CD151 Eleanor Williams Source Expert list was added to CD151.
Unexplained young onset end-stage renal disease v1.28 VIPAS39 Eleanor Williams Source Expert Review Green was added to VIPAS39.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tubulointerstitial kidney disease v1.18 SEC61A1 Eleanor Williams Phenotypes for gene: SEC61A1 were changed from Familial juvenile Hyperuricemic nephropathy-4 MIM 617056 to Familial juvenile Hyperuricemic nephropathy-4 , OMIM:617056
Tubulointerstitial kidney disease v1.17 SEC61A1 Eleanor Williams Tag for-review was removed from gene: SEC61A1.
Tubulointerstitial kidney disease v1.17 DNAJB11 Eleanor Williams Phenotypes for gene: DNAJB11 were changed from Polycystic kidney disease 6 with or without polycystic liver disease MIM 618061; Tubulointerstitial disease to Polycystic kidney disease 6 with or without polycystic liver disease, OMIM:618061; Tubulointerstitial disease
Tubulointerstitial kidney disease v1.16 DNAJB11 Eleanor Williams Tag for-review was removed from gene: DNAJB11.
Tubulointerstitial kidney disease v1.16 SEC61A1 Eleanor Williams commented on gene: SEC61A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. The reviewers note that 2 variants associated with kidney disease on HGMD (reported by Bolar et al. 2016). Zebrafish model shows that knockdown of sec61a1 results in a phenotype consistent with tubular atrophy. Variants in the gene result in abnormal intracellular localisation and aggregation (IHC of patient derived kidney biopsy) or decreased protein levels (transfection of HEK293 cells). They are also unable to rescue the tubular atrophy phenotype in zebrafish embryos with morpholino knockdown of the sec61a1 otholog (Bolar et al. 2016)
Tubulointerstitial kidney disease v1.16 DNAJB11 Eleanor Williams commented on gene: DNAJB11: The rating of this gene has been updated following NHS Genomic Medicine Service approval. The reviewers note a patient with likely pathogenic frameshift who had a later presentation of renal cysts on background of interstitial disease. 19 variants associated with DNAJB11 or AD PKD on HGMD. Recent collaborative paper by Huynh et al. (2020) reports a total of 77 patients (27 pedigrees) that have been described in the literature. The majority of these patients present with polycystic kidneys.
Tubulointerstitial kidney disease v1.15 SEC61A1 Eleanor Williams Source Expert Review Green was added to SEC61A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tubulointerstitial kidney disease v1.15 DNAJB11 Eleanor Williams Source Expert Review Green was added to DNAJB11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v1.30 RNF43 Arina Puzriakova changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Inherited polyposis and early onset colorectal cancer - germline testing v1.30 RNF43 Arina Puzriakova commented on gene: RNF43
Inherited polyposis and early onset colorectal cancer - germline testing v1.29 RNF43 Arina Puzriakova Source Expert Review Green was added to RNF43.
Mode of inheritance for gene RNF43 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Inherited pancreatic cancer v1.20 BRCA1 Arina Puzriakova edited their review of gene: BRCA1: Added comment: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Inherited pancreatic cancer v1.19 BRCA1 Arina Puzriakova Source Expert Review Green was added to BRCA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe insulin resistance and lipodystrophy syndromes v2.23 INSR Ivone Leong commented on gene: INSR
Severe insulin resistance and lipodystrophy syndromes v2.22 INSR Ivone Leong gene: INSR was added
gene: INSR was added to Lipodystrophy - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: INSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: INSR were set to Diabetes mellitus, insulin-resistant, with acanthosis nigricans, OMIM:610549
Intestinal failure or congenital diarrhoea v1.48 TMPRSS15 Ivone Leong Tag Q2_21_rating was removed from gene: TMPRSS15.
Intestinal failure or congenital diarrhoea v1.48 WNT2B Ivone Leong Tag Q2_21_rating was removed from gene: WNT2B.
Inherited predisposition to acute myeloid leukaemia (AML) v1.21 SAMD9L Arina Puzriakova reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v1.20 SAMD9L Arina Puzriakova gene: SAMD9L was added
gene: SAMD9L was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Expert Review Green
Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SAMD9L were set to 11172908; 10640152
Phenotypes for gene: SAMD9L were set to Monosomy 7 myelodysplasia and leukemia syndrome 1, OMIM:252270
Intestinal failure or congenital diarrhoea v1.48 PLVAP Ivone Leong Tag Q2_21_rating was removed from gene: PLVAP.
Intestinal failure or congenital diarrhoea v1.48 NEUROG3 Ivone Leong Tag Q2_21_rating was removed from gene: NEUROG3.
Renal tubulopathies v2.39 VPS33B Eleanor Williams Phenotypes for gene: VPS33B were changed from Arthrogryposis, renal dysfunction, and cholestasis 1 #208085 to Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085
Renal tubulopathies v2.38 VPS33B Eleanor Williams Tag for-review was removed from gene: VPS33B.
Renal tubulopathies v2.38 VIPAS39 Eleanor Williams Phenotypes for gene: VIPAS39 were changed from Arthrogryposis, renal dysfunction, and cholestasis 2 #613404 to Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404
Renal tubulopathies v2.37 VIPAS39 Eleanor Williams Tag for-review was removed from gene: VIPAS39.
Renal tubulopathies v2.37 SLC2A2 Eleanor Williams Phenotypes for gene: SLC2A2 were changed from Fanconi-Bickel syndrome, MIM# 227810 to Fanconi-Bickel syndrome, OMIM:227810
Inherited breast cancer and ovarian cancer v0.16 PALB2 Arina Puzriakova Phenotypes for gene: PALB2 were changed from Fanconi anemia, complementation group N, 610832; High Risk Breast Cancer; {Pancreatic cancer, susceptibility to, 3}, 613348; Breast and Ovarian Cancer; {Breast cancer, susceptibility to}, 114480 to {Breast cancer, susceptibility to}, OMIM:114480
Renal tubulopathies v2.36 SLC2A2 Eleanor Williams Tag for-review was removed from gene: SLC2A2.
Inherited breast cancer and ovarian cancer v0.15 BRCA2 Arina Puzriakova Phenotypes for gene: BRCA2 were changed from Breast and Ovarian Cancer; Breast cancer; {Breast cancer, male, susceptibility to}, 114480; Hereditary Breast and Ovarian Cancer Syndrome; {Glioblastoma 3},; Hereditary Breast and Ovarian Cancer; {Medulloblastoma}, 155255; Prostate cancer, 176807; {Breast-ovarian cancer, familial, 2}, 612555; High Risk Breast Cancer; Fanconi anemia, complementation group D1, 605724; Wilms tumor, 194070 to {Breast-ovarian cancer, familial, 2}, OMIM:612555
Renal tubulopathies v2.36 SARS2 Eleanor Williams Phenotypes for gene: SARS2 were changed from Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845; Progressive Spastic Paresis to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, OMIM:613845; Progressive Spastic Paresis
Renal tubulopathies v2.35 SARS2 Eleanor Williams Tag for-review was removed from gene: SARS2.
Renal tubulopathies v2.35 HNF4A Eleanor Williams Phenotypes for gene: HNF4A were changed from Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM#616026 to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026
Inherited breast cancer and ovarian cancer v0.14 BRCA1 Arina Puzriakova Phenotypes for gene: BRCA1 were changed from {Breast-ovarian cancer, familial, 1}, 604370; Breast and Ovarian Cancer; {Pancreatic cancer, susceptibility to, 4}, 614320; Breast cancer; Hereditary Breast and Ovarian Cancer Syndrome; Hereditary Breast and Ovarian Cancer; High Risk Breast Cancer to {Breast-ovarian cancer, familial, 1}, OMIM:604370
Renal tubulopathies v2.34 HNF4A Eleanor Williams Tag for-review was removed from gene: HNF4A.
Renal tubulopathies v2.34 CLDN10 Eleanor Williams Phenotypes for gene: CLDN10 were changed from Hypokalemic-alkalotic salt-losing tubulopathy (no OMIM number); HELIX syndrome, OMIM:617671 to Hypokalemic-alkalotic salt-losing tubulopathy; HELIX syndrome, OMIM:617671
Renal tubulopathies v2.33 CLDN10 Eleanor Williams Phenotypes for gene: CLDN10 were changed from Hypokalemic-alkalotic salt-losing tubulopathy (no OMIM number); HELIX syndrome, 617671 to Hypokalemic-alkalotic salt-losing tubulopathy (no OMIM number); HELIX syndrome, OMIM:617671
Intestinal failure or congenital diarrhoea v1.48 AP1S1 Ivone Leong Tag Q2_21_rating was removed from gene: AP1S1.
Renal tubulopathies v2.32 CLDN10 Eleanor Williams Tag for-review was removed from gene: CLDN10.
Inherited breast cancer and ovarian cancer v0.13 ATM Arina Puzriakova Publications for gene: ATM were set to {Breast cancer, susceptibility to}, OMIM:114480
Renal tubulopathies v2.32 VPS33B Eleanor Williams commented on gene: VPS33B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Renal tubulopathies v2.32 VIPAS39 Eleanor Williams commented on gene: VIPAS39: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Renal tubulopathies v2.32 SLC2A2 Eleanor Williams commented on gene: SLC2A2
Renal tubulopathies v2.32 SARS2 Eleanor Williams commented on gene: SARS2
Renal tubulopathies v2.32 HNF4A Eleanor Williams commented on gene: HNF4A
Renal tubulopathies v2.32 CLDN10 Eleanor Williams commented on gene: CLDN10: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Renal tubulopathies v2.31 VPS33B Eleanor Williams Source Expert Review Green was added to VPS33B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal tubulopathies v2.31 VIPAS39 Eleanor Williams Source Expert Review Green was added to VIPAS39.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal tubulopathies v2.31 SLC2A2 Eleanor Williams Source Expert Review Green was added to SLC2A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal tubulopathies v2.31 SARS2 Eleanor Williams Source Expert Review Green was added to SARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal tubulopathies v2.31 HNF4A Eleanor Williams Source Expert Review Green was added to HNF4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal tubulopathies v2.31 CLDN10 Eleanor Williams Source Expert Review Green was added to CLDN10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v1.48 XIAP Eleanor Williams commented on gene: XIAP: This gene has previously been called BIRC4
Intestinal failure or congenital diarrhoea v1.48 XIAP Eleanor Williams commented on gene: XIAP
Intestinal failure or congenital diarrhoea v1.48 WNT2B Eleanor Williams commented on gene: WNT2B
Intestinal failure or congenital diarrhoea v1.48 TTC7A Eleanor Williams commented on gene: TTC7A
Intestinal failure or congenital diarrhoea v1.48 TTC37 Eleanor Williams commented on gene: TTC37
Intestinal failure or congenital diarrhoea v1.48 TMPRSS15 Eleanor Williams commented on gene: TMPRSS15
Intestinal failure or congenital diarrhoea v1.48 TERT Eleanor Williams commented on gene: TERT
Intestinal failure or congenital diarrhoea v1.48 STXBP2 Eleanor Williams commented on gene: STXBP2
Intestinal failure or congenital diarrhoea v1.48 STX3 Eleanor Williams commented on gene: STX3
Intestinal failure or congenital diarrhoea v1.48 SPINT2 Eleanor Williams commented on gene: SPINT2
Intestinal failure or congenital diarrhoea v1.48 SLC9A3 Eleanor Williams commented on gene: SLC9A3
Intestinal failure or congenital diarrhoea v1.48 SLC5A1 Eleanor Williams commented on gene: SLC5A1
Intestinal failure or congenital diarrhoea v1.48 SLC39A4 Eleanor Williams commented on gene: SLC39A4
Intestinal failure or congenital diarrhoea v1.48 SLC26A3 Eleanor Williams commented on gene: SLC26A3
Intestinal failure or congenital diarrhoea v1.48 SLC10A2 Eleanor Williams commented on gene: SLC10A2: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 SLC10A2 Eleanor Williams commented on gene: SLC10A2
Intestinal failure or congenital diarrhoea v1.48 SKIV2L Eleanor Williams commented on gene: SKIV2L
Intestinal failure or congenital diarrhoea v1.48 SI Eleanor Williams commented on gene: SI
Intestinal failure or congenital diarrhoea v1.48 SAR1B Eleanor Williams commented on gene: SAR1B
Intestinal failure or congenital diarrhoea v1.48 RFX6 Eleanor Williams commented on gene: RFX6
Intestinal failure or congenital diarrhoea v1.48 PLVAP Eleanor Williams commented on gene: PLVAP
Intestinal failure or congenital diarrhoea v1.48 PCSK1 Eleanor Williams commented on gene: PCSK1: Two patients reported in PMID: 9207799 and PMID: 14617756 are reported to have PC1 deficiency with a obesity, hypoadrenalism, reactive hypoglycemia, and elevated circulating levels of certain prohormones phenotype. The second patient (PMID: 14617756) had severe refractory neonatal diarrhea, malabsorptive in type and re-investigation of the first patient showed marked small-intestinal absorptive dysfunction. Both patients were found to have compound heterozygous protein altering variants in PC1 (now known as PCSK1). PMID: 17595246 - report a 3rd individual who was homozygous for a novel missense mutation Ser307Leu in PCSK1 who presented with obesity and persistent diarrhea.
Intestinal failure or congenital diarrhoea v1.48 PCSK1 Eleanor Williams commented on gene: PCSK1
Intestinal failure or congenital diarrhoea v1.48 NEUROG3 Eleanor Williams commented on gene: NEUROG3
Intestinal failure or congenital diarrhoea v1.48 MYO5B Eleanor Williams commented on gene: MYO5B
Intestinal failure or congenital diarrhoea v1.48 MTTP Eleanor Williams commented on gene: MTTP: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 MTTP Eleanor Williams commented on gene: MTTP
Intestinal failure or congenital diarrhoea v1.48 LRBA Eleanor Williams commented on gene: LRBA
Intestinal failure or congenital diarrhoea v1.48 LCT Eleanor Williams commented on gene: LCT
Intestinal failure or congenital diarrhoea v1.48 KMT2D Eleanor Williams commented on gene: KMT2D: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 KMT2D Eleanor Williams commented on gene: KMT2D
Intestinal failure or congenital diarrhoea v1.48 ICOS Eleanor Williams commented on gene: ICOS
Intestinal failure or congenital diarrhoea v1.48 GUCY2C Eleanor Williams commented on gene: GUCY2C
Intestinal failure or congenital diarrhoea v1.48 FOXP3 Eleanor Williams commented on gene: FOXP3
Intestinal failure or congenital diarrhoea v1.48 FAT4 Eleanor Williams commented on gene: FAT4: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 FAT4 Eleanor Williams commented on gene: FAT4
Intestinal failure or congenital diarrhoea v1.48 EPCAM Eleanor Williams commented on gene: EPCAM: This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 EPCAM Eleanor Williams commented on gene: EPCAM
Intestinal failure or congenital diarrhoea v1.48 EGFR Eleanor Williams commented on gene: EGFR
Intestinal failure or congenital diarrhoea v1.48 DGAT1 Eleanor Williams commented on gene: DGAT1
Intestinal failure or congenital diarrhoea v1.48 CTLA4 Eleanor Williams commented on gene: CTLA4
Intestinal failure or congenital diarrhoea v1.48 CD55 Eleanor Williams commented on gene: CD55
Intestinal failure or congenital diarrhoea v1.48 CCBE1 Eleanor Williams commented on gene: CCBE1: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 CCBE1 Eleanor Williams commented on gene: CCBE1
Intestinal failure or congenital diarrhoea v1.48 ARX Eleanor Williams commented on gene: ARX
Intestinal failure or congenital diarrhoea v1.48 APOB Eleanor Williams commented on gene: APOB: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 APOB Eleanor Williams commented on gene: APOB
Intestinal failure or congenital diarrhoea v1.48 AP1S1 Eleanor Williams commented on gene: AP1S1
Intestinal failure or congenital diarrhoea v1.48 ANGPTL3 Eleanor Williams commented on gene: ANGPTL3: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 ANGPTL3 Eleanor Williams commented on gene: ANGPTL3
Intestinal failure or congenital diarrhoea v1.48 ADAMTS3 Eleanor Williams commented on gene: ADAMTS3: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 ADAMTS3 Eleanor Williams commented on gene: ADAMTS3
Intestinal failure or congenital diarrhoea v1.48 ADAM17 Eleanor Williams commented on gene: ADAM17: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 ADAM17 Eleanor Williams commented on gene: ADAM17
Intestinal failure or congenital diarrhoea v1.47 XIAP Ivone Leong gene: XIAP was added
gene: XIAP was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: XIAP were set to Lymphoproliferative syndrome, X-linked, 2, OMIM:300635
Intestinal failure or congenital diarrhoea v1.47 WNT2B Ivone Leong Source Expert Review Green was added to WNT2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v1.47 TTC7A Ivone Leong gene: TTC7A was added
gene: TTC7A was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC7A were set to Gastrointestinal defects and immunodeficiency syndrome, OMIM:243150
Intestinal failure or congenital diarrhoea v1.47 TMPRSS15 Ivone Leong Source Expert Review Green was added to TMPRSS15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v1.47 TERT Ivone Leong gene: TERT was added
gene: TERT was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: TERT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TERT were set to Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Intestinal failure or congenital diarrhoea v1.47 SLC5A1 Ivone Leong gene: SLC5A1 was added
gene: SLC5A1 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: SLC5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A1 were set to Glucose/galactose malabsorption, OMIM:606824
Intestinal failure or congenital diarrhoea v1.47 SLC39A4 Ivone Leong gene: SLC39A4 was added
gene: SLC39A4 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica, OMIM:201100
Intestinal failure or congenital diarrhoea v1.47 SLC10A2 Ivone Leong gene: SLC10A2 was added
gene: SLC10A2 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: SLC10A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC10A2 were set to ?Bile acid malabsorption, primary, 1, OMIM:613291
Intestinal failure or congenital diarrhoea v1.47 SI Ivone Leong gene: SI was added
gene: SI was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: SI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SI were set to Sucrase-isomaltase deficiency, congenital, OMIM:222900
Intestinal failure or congenital diarrhoea v1.47 SAR1B Ivone Leong gene: SAR1B was added
gene: SAR1B was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAR1B were set to Chylomicron retention disease, OMIM:246700
Intestinal failure or congenital diarrhoea v1.47 RFX6 Ivone Leong gene: RFX6 was added
gene: RFX6 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFX6 were set to Mitchell-Riley syndrome, OMIM:615710
Intestinal failure or congenital diarrhoea v1.47 PLVAP Ivone Leong Source Expert Review Green was added to PLVAP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v1.47 PCSK1 Ivone Leong gene: PCSK1 was added
gene: PCSK1 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: PCSK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCSK1 were set to Obesity with impaired prohormone processing, OMIM:600955
Intestinal failure or congenital diarrhoea v1.47 NEUROG3 Ivone Leong Source Expert Review Green was added to NEUROG3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v1.47 MTTP Ivone Leong gene: MTTP was added
gene: MTTP was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTTP were set to Abetalipoproteinemia, OMIM:200100
Intestinal failure or congenital diarrhoea v1.47 LRBA Ivone Leong gene: LRBA was added
gene: LRBA was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700
Intestinal failure or congenital diarrhoea v1.47 LCT Ivone Leong gene: LCT was added
gene: LCT was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: LCT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LCT were set to Lactase deficiency, congenital, OMIM:223000
Intestinal failure or congenital diarrhoea v1.47 KMT2D Ivone Leong gene: KMT2D was added
gene: KMT2D was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT2D were set to Kabuki syndrome 1, OMIM:147920
Intestinal failure or congenital diarrhoea v1.47 ICOS Ivone Leong gene: ICOS was added
gene: ICOS was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: ICOS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ICOS were set to Immunodeficiency, common variable, 1, OMIM:607594
Intestinal failure or congenital diarrhoea v1.47 FOXP3 Ivone Leong gene: FOXP3 was added
gene: FOXP3 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FOXP3 were set to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, OMIM:304790
Intestinal failure or congenital diarrhoea v1.47 FAT4 Ivone Leong gene: FAT4 was added
gene: FAT4 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAT4 were set to Hennekam lymphangiectasia-lymphedema syndrome 2, OMIM:616006
Intestinal failure or congenital diarrhoea v1.47 EGFR Ivone Leong gene: EGFR was added
gene: EGFR was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: EGFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EGFR were set to 26436111; 29899996; 24691054
Phenotypes for gene: EGFR were set to ?Inflammatory skin and bowel disease, neonatal, 2, OMIM:616069
Intestinal failure or congenital diarrhoea v1.47 CTLA4 Ivone Leong gene: CTLA4 was added
gene: CTLA4 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: CTLA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CTLA4 were set to Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation, OMIM:616100; {Celiac disease, susceptibility to, 3}, OMIM:609755
Intestinal failure or congenital diarrhoea v1.47 CD55 Ivone Leong gene: CD55 was added
gene: CD55 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: CD55 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD55 were set to Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, OMIM:226300
Intestinal failure or congenital diarrhoea v1.47 CCBE1 Ivone Leong gene: CCBE1 was added
gene: CCBE1 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCBE1 were set to Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
Intestinal failure or congenital diarrhoea v1.47 ARX Ivone Leong gene: ARX was added
gene: ARX was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ARX were set to Lissencephaly, X-linked 2, OMIM:300215
Intestinal failure or congenital diarrhoea v1.47 APOB Ivone Leong gene: APOB was added
gene: APOB was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: APOB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOB were set to Hypobetalipoproteinemia, OMIM:615558
Intestinal failure or congenital diarrhoea v1.47 AP1S1 Ivone Leong Source Expert Review Green was added to AP1S1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v1.47 ANGPTL3 Ivone Leong gene: ANGPTL3 was added
gene: ANGPTL3 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: ANGPTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANGPTL3 were set to Hypobetalipoproteinemia, familial, 2, OMIM:605019
Intestinal failure or congenital diarrhoea v1.47 ADAMTS3 Ivone Leong gene: ADAMTS3 was added
gene: ADAMTS3 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: ADAMTS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS3 were set to Hennekam lymphangiectasia-lymphedema syndrome 3, OMIM:618154
Intestinal failure or congenital diarrhoea v1.47 ADAM17 Ivone Leong gene: ADAM17 was added
gene: ADAM17 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: ADAM17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAM17 were set to ?Inflammatory skin and bowel disease, neonatal, 1, OMIM:614328
Inherited breast cancer and ovarian cancer v0.12 CHEK2 Arina Puzriakova Publications for gene: CHEK2 were set to {Breast cancer, susceptibility to}, OMIM:114480
Inherited breast cancer and ovarian cancer v0.11 ATM Arina Puzriakova Phenotypes for gene: ATM were changed from to {Breast cancer, susceptibility to}, OMIM:114480
Inherited breast cancer and ovarian cancer v0.10 CHEK2 Arina Puzriakova Phenotypes for gene: CHEK2 were changed from to {Breast cancer, susceptibility to}, OMIM:114480
Inherited breast cancer and ovarian cancer v0.9 CHEK2 Arina Puzriakova reviewed gene: CHEK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited breast cancer and ovarian cancer v0.9 ATM Arina Puzriakova reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited breast cancer and ovarian cancer v0.8 CHEK2 Arina Puzriakova gene: CHEK2 was added
gene: CHEK2 was added to Inherited breast cancer and ovarian cancer. Sources: Expert Review Green
Mode of inheritance for gene: CHEK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHEK2 were set to {Breast cancer, susceptibility to}, OMIM:114480
Inherited breast cancer and ovarian cancer v0.8 ATM Arina Puzriakova gene: ATM was added
gene: ATM was added to Inherited breast cancer and ovarian cancer. Sources: Expert Review Green
Mode of inheritance for gene: ATM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATM were set to {Breast cancer, susceptibility to}, OMIM:114480
Hereditary haemorrhagic telangiectasia v2.15 GDF2 Ivone Leong commented on gene: GDF2
Hereditary haemorrhagic telangiectasia v2.14 GDF2 Ivone Leong Source Expert Review Green was added to GDF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v1.67 TMEM126B Ivone Leong commented on gene: TMEM126B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 SURF1 Ivone Leong commented on gene: SURF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 SGCD Ivone Leong commented on gene: SGCD: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 SDHD Ivone Leong commented on gene: SDHD: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 SDHA Ivone Leong commented on gene: SDHA: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 SDHAF1 Ivone Leong commented on gene: SDHAF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 PNPLA2 Ivone Leong commented on gene: PNPLA2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NUBPL Ivone Leong commented on gene: NUBPL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NF1 Ivone Leong commented on gene: NF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFV1 Ivone Leong commented on gene: NDUFV1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFS7 Ivone Leong commented on gene: NDUFS7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFS6 Ivone Leong commented on gene: NDUFS6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFS4 Ivone Leong commented on gene: NDUFS4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFS3 Ivone Leong commented on gene: NDUFS3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFS1 Ivone Leong commented on gene: NDUFS1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFB3 Ivone Leong commented on gene: NDUFB3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFAF5 Ivone Leong commented on gene: NDUFAF5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFAF4 Ivone Leong commented on gene: NDUFAF4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFAF3 Ivone Leong commented on gene: NDUFAF3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFAF2 Ivone Leong commented on gene: NDUFAF2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFA10 Ivone Leong commented on gene: NDUFA10: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFA1 Ivone Leong commented on gene: NDUFA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 LRPPRC Ivone Leong commented on gene: LRPPRC: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 IDS Ivone Leong commented on gene: IDS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 HCN4 Ivone Leong commented on gene: HCN4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 GLB1 Ivone Leong commented on gene: GLB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 FAH Ivone Leong commented on gene: FAH: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 COX20 Ivone Leong commented on gene: COX20: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 CBL Ivone Leong commented on gene: CBL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 BRAF Ivone Leong commented on gene: BRAF: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 ATPAF2 Ivone Leong commented on gene: ATPAF2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 ATP5D Ivone Leong commented on gene: ATP5D: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 ARSB Ivone Leong commented on gene: ARSB: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 AGL Ivone Leong commented on gene: AGL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.66 TMEM126B Ivone Leong Source Expert Review Amber was added to TMEM126B.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 SURF1 Ivone Leong Source Expert Review Amber was added to SURF1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 SGCD Ivone Leong Source Expert Review Amber was added to SGCD.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 SDHD Ivone Leong Source Expert Review Amber was added to SDHD.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 SDHA Ivone Leong Source Expert Review Amber was added to SDHA.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 SDHAF1 Ivone Leong Source Expert Review Amber was added to SDHAF1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 PNPLA2 Ivone Leong Source Expert Review Amber was added to PNPLA2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NUBPL Ivone Leong Source Expert Review Amber was added to NUBPL.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NF1 Ivone Leong Source Expert Review Amber was added to NF1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFV1 Ivone Leong Source Expert Review Amber was added to NDUFV1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFS7 Ivone Leong Source Expert Review Amber was added to NDUFS7.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFS6 Ivone Leong Source Expert Review Amber was added to NDUFS6.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFS4 Ivone Leong Source Expert Review Amber was added to NDUFS4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFS3 Ivone Leong Source Expert Review Amber was added to NDUFS3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFS1 Ivone Leong Source Expert Review Amber was added to NDUFS1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFB3 Ivone Leong Source Expert Review Amber was added to NDUFB3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFAF5 Ivone Leong Source Expert Review Amber was added to NDUFAF5.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFAF4 Ivone Leong Source Expert Review Amber was added to NDUFAF4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFAF3 Ivone Leong Source Expert Review Amber was added to NDUFAF3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFAF2 Ivone Leong Source Expert Review Amber was added to NDUFAF2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFA10 Ivone Leong Source Expert Review Amber was added to NDUFA10.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFA1 Ivone Leong Source Expert Review Amber was added to NDUFA1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 LRPPRC Ivone Leong Source Expert Review Amber was added to LRPPRC.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 IDS Ivone Leong Source Expert Review Amber was added to IDS.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 HCN4 Ivone Leong Source Expert Review Amber was added to HCN4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 GLB1 Ivone Leong Source Expert Review Amber was added to GLB1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 FAH Ivone Leong Source Expert Review Amber was added to FAH.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 COX20 Ivone Leong Source Expert Review Amber was added to COX20.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 CBL Ivone Leong Source Expert Review Amber was added to CBL.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 BRAF Ivone Leong Source Expert Review Amber was added to BRAF.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 ATPAF2 Ivone Leong Source Expert Review Amber was added to ATPAF2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 ATP5D Ivone Leong Source Expert Review Amber was added to ATP5D.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 ARSB Ivone Leong Source Expert Review Amber was added to ARSB.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 AGL Ivone Leong Source Expert Review Amber was added to AGL.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Pulmonary arterial hypertension v2.18 KDR Ivone Leong Tag Q2_21_rating was removed from gene: KDR.
Pulmonary arterial hypertension v2.18 KDR Ivone Leong commented on gene: KDR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Pulmonary arterial hypertension v2.17 KDR Ivone Leong Source Expert Review Green was added to KDR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal ciliopathies v1.59 IFT140 Eleanor Williams Tag Q4_21_MOI was removed from gene: IFT140.
Tag Q4_21_NHS_review was removed from gene: IFT140.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 CFAP54 Ivone Leong Tag for-review was removed from gene: CFAP54.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 CFAP46 Ivone Leong Tag for-review was removed from gene: CFAP46.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 DNAJB13 Ivone Leong Tag for-review was removed from gene: DNAJB13.
Tag watchlist tag was added to gene: DNAJB13.
Renal ciliopathies v1.59 IFT140 Eleanor Williams commented on gene: IFT140: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 DNAJB13 Ivone Leong changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 DNAJB13 Ivone Leong changed review comment from: Submitted on behalf of NHS GMS "One study only, requires more research for inlcusion into diagnostic test. Amber genes can be included in panel designs for this research."; to: Submitted on behalf of NHS GMS "One study only, requires more research for inlcusion into diagnostic test. Amber genes can be included in panel designs for this research."
Renal ciliopathies v1.58 IFT140 Eleanor Williams Mode of inheritance for gene IFT140 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v1.55 FOXJ1 Ivone Leong Tag for-review was removed from gene: FOXJ1.
Tag watchlist tag was added to gene: FOXJ1.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 FOXJ1 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 OFD1 Ivone Leong Tag for-review was removed from gene: OFD1.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 TTC12 Ivone Leong Tag for-review was removed from gene: TTC12.
Tag watchlist tag was added to gene: TTC12.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 TTC12 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 NEK10 Ivone Leong Tag for-review was removed from gene: NEK10.
Tag watchlist tag was added to gene: NEK10.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 NEK10 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 GAS2L2 Ivone Leong Tag for-review was removed from gene: GAS2L2.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 GAS2L2 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 RPGR Ivone Leong Tag for-review was removed from gene: RPGR.
Ectodermal dysplasia v1.35 SNRPE Arina Puzriakova Tag Q2_21_rating was removed from gene: SNRPE.
Tag Q2_21_NHS_review was removed from gene: SNRPE.
Ectodermal dysplasia v1.35 AXIN2 Arina Puzriakova Tag Q4_21_expert_review was removed from gene: AXIN2.
Tag Q4_21_NHS_review was removed from gene: AXIN2.
Ectodermal dysplasia v1.35 SNRPE Arina Puzriakova commented on gene: SNRPE: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Ectodermal dysplasia v1.35 AXIN2 Arina Puzriakova commented on gene: AXIN2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Ectodermal dysplasia v1.34 SNRPE Arina Puzriakova Source Expert Review Green was added to SNRPE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ectodermal dysplasia v1.34 AXIN2 Arina Puzriakova Source Expert Review Green was added to AXIN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.55 CFAP54 Ivone Leong commented on gene: CFAP54: Submitted on behalf of NHS GMS "We have been sequencing this gene for the past 2-3 years and have not yet found a clearly pathogenic variant. A number of truncating variants were identified in CFAP54 in the 100K project, but in patients with diagnoses other than PCD and loss of function does not appear to be a disease mechanism for this gene."
Respiratory ciliopathies including non-CF bronchiectasis v1.55 CFAP46 Ivone Leong commented on gene: CFAP46: Submitted on behalf of NHS GMS "We have been sequencing this gene for the past 2-3 years and have not yet found a clearly pathogenic variant in any PCD patients."
Respiratory ciliopathies including non-CF bronchiectasis v1.55 DNAJB13 Ivone Leong commented on gene: DNAJB13: Submitted on behalf of NHS GMS "One study only, requires more research for inlcusion into diagnostic test. Amber genes can be included in panel designs for this research."
Respiratory ciliopathies including non-CF bronchiectasis v1.55 TTC12 Ivone Leong commented on gene: TTC12: Submitted on behalf of NHS GMS "Only 6 variants in HGMD, all from the one study Thomas et al. Again as in NKE10 its not clear that full variant analysis has been done to ACGS standard, e.g. the homozygous variant c.1700T>G being described as pathogenic appear to be based on PM2 but has low frequency in gnomad and parents are related, PP3, PM1 (tricky to use in a new assocaited gene), and PS3 for study showing reduced TTC12. There is clearly strong evidence in this particular study but would argue that its too soon for inclusion in a diagnostic panel, but warrants further study. Amber genes can be included in panel designs for this research."
Respiratory ciliopathies including non-CF bronchiectasis v1.55 NEK10 Ivone Leong commented on gene: NEK10: Submitted on behalf of NHS GMS "Evidence is from one study, and is not clear that full variant analysis has been done on the variants, e.g. the homozygous missense c.2243C>T described as pathogenic based on PM2, conserved amino acid and familial segregation but according to the relevant pedigree for kindred 3 (extended data fig 1 g) there are only 2 affected individuals, one of which is the proband, and this is in a consanguineous family, we would not classify this as pathogenic according to ACGS criteria. Limited varaints reported in HGMD. As above, this gene would warrant further research but too soon for inclusion on routine diagnostic testing. Amber genes can be included in panel designs for this research."
Respiratory ciliopathies including non-CF bronchiectasis v1.55 GAS2L2 Ivone Leong commented on gene: GAS2L2: Submitted on behalf of NHS GMS "There is limited evidence. Quoted study has not done detailed familial segregation, only 2 unrelated individuals, but each had a variant in common. I do not see that we will be able to classify variants as pathogenic without further evidence. Only 8 variants in HGMD, 6 of uncertain significancen and 2 pathogenic (both from Bustamante-Marin). This gene would benefit from further research, it may be too early to be used diagnostically. Amber genes can be included in panel designs for this research."
Respiratory ciliopathies including non-CF bronchiectasis v1.55 CFAP54 Ivone Leong commented on gene: CFAP54: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 CFAP46 Ivone Leong commented on gene: CFAP46: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 DNAJB13 Ivone Leong commented on gene: DNAJB13: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 FOXJ1 Ivone Leong commented on gene: FOXJ1: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 OFD1 Ivone Leong commented on gene: OFD1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 TTC12 Ivone Leong commented on gene: TTC12: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 NEK10 Ivone Leong commented on gene: NEK10: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 GAS2L2 Ivone Leong commented on gene: GAS2L2
Respiratory ciliopathies including non-CF bronchiectasis v1.55 RPGR Ivone Leong commented on gene: RPGR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Respiratory ciliopathies including non-CF bronchiectasis v1.54 CFAP54 Ivone Leong Source Expert Review Red was added to CFAP54.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.54 CFAP46 Ivone Leong Source Expert Review Red was added to CFAP46.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.54 DNAJB13 Ivone Leong Source Expert Review Amber was added to DNAJB13.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.54 OFD1 Ivone Leong Source Expert Review Green was added to OFD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.54 RPGR Ivone Leong Source Expert Review Green was added to RPGR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Laterality disorders and isomerism v1.47 MNS1 Ivone Leong Tag watchlist tag was added to gene: MNS1.
Laterality disorders and isomerism v1.47 MNS1 Ivone Leong Tag for-review was removed from gene: MNS1.
Laterality disorders and isomerism v1.47 MNS1 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. Limited evidence, two studies, would prefer more evidence for upgrading to green.; to: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Laterality disorders and isomerism v1.47 FOXJ1 Ivone Leong Tag for-review was removed from gene: FOXJ1.
Laterality disorders and isomerism v1.47 PKD1L1 Ivone Leong Tag for-review was removed from gene: PKD1L1.
Laterality disorders and isomerism v1.47 MNS1 Ivone Leong commented on gene: MNS1: Submitted on behalf of NHS GMS "Limited evidence, two studies, would prefer more evidence for upgrading to green."
Laterality disorders and isomerism v1.47 MNS1 Ivone Leong commented on gene: MNS1: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. Limited evidence, two studies, would prefer more evidence for upgrading to green.
Laterality disorders and isomerism v1.47 FOXJ1 Ivone Leong commented on gene: FOXJ1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Laterality disorders and isomerism v1.47 PKD1L1 Ivone Leong commented on gene: PKD1L1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Laterality disorders and isomerism v1.46 FOXJ1 Ivone Leong Source Expert Review Green was added to FOXJ1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Laterality disorders and isomerism v1.46 PKD1L1 Ivone Leong Source Expert Review Green was added to PKD1L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary haemorrhagic telangiectasia v2.13 RASA1 Ivone Leong Tag for-review was removed from gene: RASA1.
Hereditary haemorrhagic telangiectasia v2.13 RASA1 Ivone Leong commented on gene: RASA1
Hereditary haemorrhagic telangiectasia v2.12 RASA1 Ivone Leong Source Expert Review Green was added to RASA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 ZNFX1 Arina Puzriakova Tag Q2_21_rating was removed from gene: ZNFX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 SYK Arina Puzriakova Tag Q2_21_rating was removed from gene: SYK.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 SASH3 Arina Puzriakova Tag Q2_21_rating was removed from gene: SASH3.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 PLG Arina Puzriakova Tag Q2_21_NHS_review was removed from gene: PLG.
Tag Q3_21_expert_review was removed from gene: PLG.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 PI4KA Arina Puzriakova Tag Q3_21_rating was removed from gene: PI4KA.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 MPEG1 Arina Puzriakova Tag Q2_21_rating was removed from gene: MPEG1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 KMT2D Arina Puzriakova Tag Q3_21_rating was removed from gene: KMT2D.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 KMT2A Arina Puzriakova Tag Q3_21_rating was removed from gene: KMT2A.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 KDM6A Arina Puzriakova Tag Q3_21_expert_review was removed from gene: KDM6A.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 IPO8 Arina Puzriakova Tag Q3_21_expert_review was removed from gene: IPO8.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 IKZF3 Arina Puzriakova Tag Q4_21_rating was removed from gene: IKZF3.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 ELF4 Arina Puzriakova Tag Q3_21_rating was removed from gene: ELF4.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 DEF6 Arina Puzriakova Tag Q4_21_rating was removed from gene: DEF6.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 CLPB Arina Puzriakova Tag Q4_21_MOI was removed from gene: CLPB.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 ZNFX1 Arina Puzriakova commented on gene: ZNFX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 SYK Arina Puzriakova commented on gene: SYK: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 SASH3 Arina Puzriakova commented on gene: SASH3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 PLG Arina Puzriakova commented on gene: PLG: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 PI4KA Arina Puzriakova commented on gene: PI4KA
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 MPEG1 Arina Puzriakova commented on gene: MPEG1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 KMT2D Arina Puzriakova commented on gene: KMT2D: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 KMT2A Arina Puzriakova commented on gene: KMT2A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 KDM6A Arina Puzriakova commented on gene: KDM6A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 IPO8 Arina Puzriakova commented on gene: IPO8
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 IKZF3 Arina Puzriakova commented on gene: IKZF3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 ELF4 Arina Puzriakova commented on gene: ELF4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 DEF6 Arina Puzriakova commented on gene: DEF6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 CLPB Arina Puzriakova commented on gene: CLPB: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 ZNFX1 Arina Puzriakova Source Expert Review Green was added to ZNFX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 SYK Arina Puzriakova Source Expert Review Green was added to SYK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 SASH3 Arina Puzriakova Source Expert Review Green was added to SASH3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 PLG Arina Puzriakova Source Expert Review Green was added to PLG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 PI4KA Arina Puzriakova Source Expert Review Green was added to PI4KA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 MPEG1 Arina Puzriakova Source Expert Review Green was added to MPEG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 KMT2D Arina Puzriakova Source Expert Review Green was added to KMT2D.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 KMT2A Arina Puzriakova Source Expert Review Green was added to KMT2A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal ciliopathies v1.57 CENPF Eleanor Williams Tag for-review was removed from gene: CENPF.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 KDM6A Arina Puzriakova Source Expert Review Green was added to KDM6A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 IKZF3 Arina Puzriakova Source Expert Review Green was added to IKZF3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 ELF4 Arina Puzriakova Source Expert Review Green was added to ELF4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 DEF6 Arina Puzriakova Source Expert Review Green was added to DEF6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 CLPB Arina Puzriakova Mode of inheritance for gene CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v1.115 TEK Ivone Leong Tag Q2_21_rating was removed from gene: TEK.
Structural eye disease v1.115 OCRL Ivone Leong Tag Q2_21_rating was removed from gene: OCRL.
Structural eye disease v1.115 LMX1B Ivone Leong Tag Q2_21_rating was removed from gene: LMX1B.
Structural eye disease v1.115 IFIH1 Ivone Leong Tag Q2_21_rating was removed from gene: IFIH1.
Structural eye disease v1.115 CREBBP Ivone Leong Tag Q2_21_rating was removed from gene: CREBBP.
Tag Q1_22_NHS_review was removed from gene: CREBBP.
Structural eye disease v1.115 ASPH Ivone Leong Tag Q3_21_rating was removed from gene: ASPH.
Tag Q3_21_NHS_review was removed from gene: ASPH.
Structural eye disease v1.115 TEK Ivone Leong commented on gene: TEK: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.115 OCRL Ivone Leong commented on gene: OCRL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.115 LMX1B Ivone Leong commented on gene: LMX1B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.115 IFIH1 Ivone Leong commented on gene: IFIH1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.115 CREBBP Ivone Leong commented on gene: CREBBP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.115 ASPH Ivone Leong commented on gene: ASPH: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.114 TEK Ivone Leong Source Expert Review Green was added to TEK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.114 OCRL Ivone Leong Source Expert Review Green was added to OCRL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.114 LMX1B Ivone Leong Source Expert Review Green was added to LMX1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.114 IFIH1 Ivone Leong Source Expert Review Green was added to IFIH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.114 CREBBP Ivone Leong Source Expert Review Green was added to CREBBP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.114 ASPH Ivone Leong Source Expert Review Green was added to ASPH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thrombophilia with a likely monogenic cause v1.22 ADAMTS13 Arina Puzriakova Tag Q2_21_NHS_review was removed from gene: ADAMTS13.
Tag Q2_21_MOI was removed from gene: ADAMTS13.
Thrombophilia with a likely monogenic cause v1.22 ADAMTS13 Arina Puzriakova commented on gene: ADAMTS13: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Thrombophilia with a likely monogenic cause v1.21 ADAMTS13 Arina Puzriakova Mode of inheritance for gene ADAMTS13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies v1.57 DHCR7 Eleanor Williams Phenotypes for gene: DHCR7 were changed from Smith-Lemli-Opitz syndrome 270400 to Smith-Lemli-Opitz syndrome, OMIM:270400
Renal ciliopathies v1.56 DHCR7 Eleanor Williams Tag for-review was removed from gene: DHCR7.
Renal ciliopathies v1.56 CENPF Eleanor Williams Phenotypes for gene: CENPF were changed from Stromme syndrome, 243605; Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome to Stromme syndrome, OMIM:243605; Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Retinal disorders v2.245 ZFYVE26 Ivone Leong Tag Q2_21_rating was removed from gene: ZFYVE26.
Bleeding and platelet disorders v1.35 TNXB Arina Puzriakova Tag Q3_21_NHS_review was removed from gene: TNXB.
Tag Q3_21_expert_review was removed from gene: TNXB.
Retinal disorders v2.245 UNC119 Ivone Leong Tag Q2_21_rating was removed from gene: UNC119.
Retinal disorders v2.245 TUBB4B Ivone Leong Tag Q2_21_rating was removed from gene: TUBB4B.
Bleeding and platelet disorders v1.35 COL3A1 Arina Puzriakova Tag Q3_21_NHS_review was removed from gene: COL3A1.
Tag Q3_21_expert_review was removed from gene: COL3A1.
Retinal disorders v2.245 TMEM218 Ivone Leong Tag Q4_21_rating was removed from gene: TMEM218.
Tag Q4_21_NHS_review was removed from gene: TMEM218.
Renal ciliopathies v1.55 ARMC9 Eleanor Williams Phenotypes for gene: ARMC9 were changed from Joubert syndrome 30, 617622 to Joubert syndrome 30, OMIM:617622
Retinal disorders v2.245 TMEM218 Ivone Leong Deleted their comment
Retinal disorders v2.245 MED12 Ivone Leong Tag Q3_21_MOI was removed from gene: MED12.
Tag Q3_21_rating was removed from gene: MED12.
Tag Q3_21_expert_review was removed from gene: MED12.
Renal ciliopathies v1.54 ARMC9 Eleanor Williams Tag for-review was removed from gene: ARMC9.
Bleeding and platelet disorders v1.35 ADAMTS13 Arina Puzriakova Tag Q2_21_expert_review was removed from gene: ADAMTS13.
Tag Q2_21_NHS_review was removed from gene: ADAMTS13.
Tag Q2_21_MOI was removed from gene: ADAMTS13.
Renal ciliopathies v1.54 ALMS1 Eleanor Williams Phenotypes for gene: ALMS1 were changed from Alstrom Syndrome; Bardet-Biedl Syndrome; 203800; Alstrom syndrome to Bardet-Biedl Syndrome; Alstrom syndrome, OMIM:203800
Retinal disorders v2.245 IMPG1 Ivone Leong Tag Q3_21_MOI was removed from gene: IMPG1.
Bleeding and platelet disorders v1.35 TNXB Arina Puzriakova commented on gene: TNXB: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that this gene should be green.
Bleeding and platelet disorders v1.35 COL3A1 Arina Puzriakova commented on gene: COL3A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that this gene should be green.
Bleeding and platelet disorders v1.35 ADAMTS13 Arina Puzriakova edited their review of gene: ADAMTS13: Added comment: The rating and mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.; Changed rating: RED
Bleeding and platelet disorders v1.34 TNXB Arina Puzriakova Source Expert Review Green was added to TNXB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bleeding and platelet disorders v1.34 COL3A1 Arina Puzriakova Source Expert Review Green was added to COL3A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bleeding and platelet disorders v1.34 ADAMTS13 Arina Puzriakova Source Expert Review Red was added to ADAMTS13.
Mode of inheritance for gene ADAMTS13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Rating Changed from Green List (high evidence) to Red List (low evidence)
Retinal disorders v2.245 IMPG1 Ivone Leong changed review comment from: The mode of inheritance of this gene has been updated followingNHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Renal ciliopathies v1.53 ALMS1 Eleanor Williams Tag for-review was removed from gene: ALMS1.
Retinal disorders v2.245 FAM57B Ivone Leong Tag Q2_21_rating was removed from gene: FAM57B.
Renal ciliopathies v1.53 ICK Eleanor Williams Tag for-review was removed from gene: ICK.
Retinal disorders v2.245 ARL3 Ivone Leong Tag Q4_21_rating was removed from gene: ARL3.
Retinal disorders v2.245 AMACR Ivone Leong Tag Q2_21_rating was removed from gene: AMACR.
Tag Q2_21_NHS_review was removed from gene: AMACR.
Retinal disorders v2.245 AMACR Ivone Leong Deleted their comment
Retinal disorders v2.245 AMACR Ivone Leong changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 ALDH3A2 Ivone Leong Tag Q3_21_rating was removed from gene: ALDH3A2.
Renal ciliopathies v1.53 DLG5 Eleanor Williams Tag for-review was removed from gene: DLG5.
Retinal disorders v2.245 ALDH3A2 Ivone Leong Deleted their comment
Retinal disorders v2.245 ACBD5 Ivone Leong Tag Q2_21_rating was removed from gene: ACBD5.
Renal ciliopathies v1.53 IFT140 Eleanor Williams Tag for-review was removed from gene: IFT140.
Renal ciliopathies v1.53 IFT27 Eleanor Williams Phenotypes for gene: IFT27 were changed from ?Bardet-Biedl syndrome 19, 615996 to ?Bardet-Biedl syndrome 19, OMIM:615996
Renal ciliopathies v1.52 IFT27 Eleanor Williams Tag for-review was removed from gene: IFT27.
Renal ciliopathies v1.52 IFT172 Eleanor Williams Phenotypes for gene: IFT172 were changed from Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 to Short-rib thoracic dysplasia 10 with or without polydactyly, OMIM:615630
Renal ciliopathies v1.51 IFT172 Eleanor Williams Tag for-review was removed from gene: IFT172.
Renal ciliopathies v1.51 DHCR7 Eleanor Williams commented on gene: DHCR7: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Renal ciliopathies v1.51 CENPF Eleanor Williams commented on gene: CENPF: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Renal ciliopathies v1.51 ARMC9 Eleanor Williams commented on gene: ARMC9: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Renal ciliopathies v1.51 ALMS1 Eleanor Williams commented on gene: ALMS1: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Renal ciliopathies v1.51 ICK Eleanor Williams commented on gene: ICK: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Renal ciliopathies v1.51 DLG5 Eleanor Williams commented on gene: DLG5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Renal ciliopathies v1.51 IFT140 Eleanor Williams commented on gene: IFT140: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Renal ciliopathies v1.51 IFT27 Eleanor Williams commented on gene: IFT27: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Renal ciliopathies v1.51 IFT172 Eleanor Williams commented on gene: IFT172
Retinal disorders v2.245 ZFYVE26 Ivone Leong commented on gene: ZFYVE26: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 UNC119 Ivone Leong commented on gene: UNC119: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 TUBB4B Ivone Leong commented on gene: TUBB4B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 TMEM218 Ivone Leong commented on gene: TMEM218: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 TMEM218 Ivone Leong commented on gene: TMEM218: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 MED12 Ivone Leong commented on gene: MED12
Retinal disorders v2.245 IMPG1 Ivone Leong commented on gene: IMPG1
Retinal disorders v2.245 FAM57B Ivone Leong commented on gene: FAM57B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 ARL3 Ivone Leong commented on gene: ARL3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 AMACR Ivone Leong commented on gene: AMACR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 AMACR Ivone Leong commented on gene: AMACR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 ALDH3A2 Ivone Leong commented on gene: ALDH3A2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 ALDH3A2 Ivone Leong commented on gene: ALDH3A2
Retinal disorders v2.245 ACBD5 Ivone Leong commented on gene: ACBD5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.244 ZFYVE26 Ivone Leong Source Expert Review Green was added to ZFYVE26.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.244 UNC119 Ivone Leong Source Expert Review Green was added to UNC119.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.244 TUBB4B Ivone Leong Source Expert Review Green was added to TUBB4B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.244 TMEM218 Ivone Leong Source Expert Review Green was added to TMEM218.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.244 MED12 Ivone Leong Source Expert Review Green was added to MED12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.244 IMPG1 Ivone Leong Mode of inheritance for gene IMPG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v2.244 FAM57B Ivone Leong Source Expert Review Green was added to FAM57B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.244 ARL3 Ivone Leong Source Expert Review Green was added to ARL3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.244 AMACR Ivone Leong Source Expert Review Green was added to AMACR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.244 ALDH3A2 Ivone Leong Source Expert Review Green was added to ALDH3A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.244 ACBD5 Ivone Leong Source Expert Review Green was added to ACBD5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal ciliopathies v1.50 ARMC9 Eleanor Williams Source Expert Review Red was added to ARMC9.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Renal ciliopathies v1.50 DLG5 Eleanor Williams Source Expert Review Green was added to DLG5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal ciliopathies v1.50 IFT140 Eleanor Williams Source Expert Review Green was added to IFT140.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal ciliopathies v1.50 IFT27 Eleanor Williams Source Expert Review Green was added to IFT27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal ciliopathies v1.50 IFT172 Eleanor Williams Source Expert Review Green was added to IFT172.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Optic neuropathy v2.60 ALPK1 Ivone Leong Tag Q4_21_rating was removed from gene: ALPK1.
Tag Q4_21_NHS_review was removed from gene: ALPK1.
Optic neuropathy v2.60 ALPK1 Ivone Leong commented on gene: ALPK1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Optic neuropathy v2.59 ALPK1 Ivone Leong Source Expert Review Green was added to ALPK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ophthalmological ciliopathies v1.29 TMEM218 Ivone Leong Tag Q4_21_rating was removed from gene: TMEM218.
Tag Q4_21_NHS_review was removed from gene: TMEM218.
Ophthalmological ciliopathies v1.29 TMEM218 Ivone Leong commented on gene: TMEM218: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Ophthalmological ciliopathies v1.28 TMEM218 Ivone Leong Source Expert Review Green was added to TMEM218.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.838 PRRX1 Arina Puzriakova Tag Q4_21_rating was removed from gene: PRRX1.
Fetal anomalies v1.838 PHF6 Arina Puzriakova Tag Q4_21_MOI was removed from gene: PHF6.
Fetal anomalies v1.838 PRRX1 Arina Puzriakova commented on gene: PRRX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.838 PHF6 Arina Puzriakova commented on gene: PHF6
Fetal anomalies v1.837 PRRX1 Arina Puzriakova Source Expert Review Green was added to PRRX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.837 PHF6 Arina Puzriakova Mode of inheritance for gene PHF6 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Bilateral congenital or childhood onset cataracts v2.100 FAR1 Ivone Leong Tag Q2_21_rating was removed from gene: FAR1.
Bilateral congenital or childhood onset cataracts v2.100 MED27 Ivone Leong Tag Q2_21_rating was removed from gene: MED27.
Bilateral congenital or childhood onset cataracts v2.100 MED27 Ivone Leong commented on gene: MED27
Bilateral congenital or childhood onset cataracts v2.100 FAR1 Ivone Leong commented on gene: FAR1
Bilateral congenital or childhood onset cataracts v2.99 MED27 Ivone Leong Source Expert Review Green was added to MED27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.99 FAR1 Ivone Leong Source Expert Review Green was added to FAR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.113 CDH2 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Structural eye disease v1.113 CDH2 Ivone Leong Tag for-review was removed from gene: CDH2.
Structural eye disease v1.113 NF2 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Structural eye disease v1.113 NF2 Ivone Leong Tag for-review was removed from gene: NF2.
Structural eye disease v1.113 DYRK1A Ivone Leong Tag for-review was removed from gene: DYRK1A.
Tag Q1_22_NHS_review was removed from gene: DYRK1A.
Structural eye disease v1.113 WDR37 Ivone Leong Tag for-review was removed from gene: WDR37.
Tag Q1_22_NHS_review was removed from gene: WDR37.
Structural eye disease v1.113 CDON Ivone Leong Tag for-review was removed from gene: CDON.
Tag Q1_22_NHS_review was removed from gene: CDON.
Structural eye disease v1.113 FZD5 Ivone Leong Tag for-review was removed from gene: FZD5.
Tag Q1_22_NHS_review was removed from gene: FZD5.
Structural eye disease v1.113 CAPN15 Ivone Leong Tag for-review was removed from gene: CAPN15.
Tag Q1_22_NHS_review was removed from gene: CAPN15.
Structural eye disease v1.113 CENPF Ivone Leong Tag for-review was removed from gene: CENPF.
Tag Q1_22_NHS_review was removed from gene: CENPF.
Structural eye disease v1.113 CRYBB1 Ivone Leong Tag for-review was removed from gene: CRYBB1.
Tag Q1_22_NHS_review was removed from gene: CRYBB1.
Structural eye disease v1.113 CDH2 Ivone Leong commented on gene: CDH2
Structural eye disease v1.113 NF2 Ivone Leong commented on gene: NF2: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Structural eye disease v1.113 DYRK1A Ivone Leong commented on gene: DYRK1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.113 WDR37 Ivone Leong commented on gene: WDR37: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.113 CDON Ivone Leong commented on gene: CDON: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.113 FZD5 Ivone Leong commented on gene: FZD5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.113 CAPN15 Ivone Leong commented on gene: CAPN15
Structural eye disease v1.113 CENPF Ivone Leong commented on gene: CENPF: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.113 CRYBB1 Ivone Leong commented on gene: CRYBB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.112 DYRK1A Ivone Leong Source Expert Review Green was added to DYRK1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.112 WDR37 Ivone Leong Source Expert Review Green was added to WDR37.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.112 CDON Ivone Leong Source Expert Review Green was added to CDON.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.112 FZD5 Ivone Leong Source Expert Review Green was added to FZD5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.112 CAPN15 Ivone Leong Source Expert Review Green was added to CAPN15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.112 CENPF Ivone Leong Source Expert Review Green was added to CENPF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.112 CRYBB1 Ivone Leong Source Expert Review Green was added to CRYBB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Multiple monogenic benign skin tumours v1.20 PDGFRB Arina Puzriakova Tag Q4_21_expert_review was removed from gene: PDGFRB.
Tag Q4_21_rating was removed from gene: PDGFRB.
Tag Q4_21_phenotype was removed from gene: PDGFRB.
Tag Q4_21_NHS_review was removed from gene: PDGFRB.
Retinal disorders v2.243 GRN Ivone Leong Tag for-review was removed from gene: GRN.
Retinal disorders v2.243 P3H2 Ivone Leong Tag for-review was removed from gene: P3H2.
Tag deletions tag was added to gene: P3H2.
Retinal disorders v2.243 MSTO1 Ivone Leong Tag for-review was removed from gene: MSTO1.
Retinal disorders v2.243 SSBP1 Ivone Leong Tag for-review was removed from gene: SSBP1.
Retinal disorders v2.243 HK1 Ivone Leong Tag for-review was removed from gene: HK1.
Retinal disorders v2.243 HK1 Ivone Leong changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.Amber or keep as green - dominant missense variant p.(Glu847Lys) reported many times in the literature. This gene is currently amber. It seems clear that the p.E847K variant is associated with retinal disease so I think that it should be green, even if retinal disease is restricted to this variant.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Multiple monogenic benign skin tumours v1.20 PDGFRB Arina Puzriakova commented on gene: PDGFRB
Retinal disorders v2.243 CA4 Ivone Leong Tag for-review was removed from gene: CA4.
Retinal disorders v2.243 HARS Ivone Leong Tag for-review was removed from gene: HARS.
Multiple monogenic benign skin tumours v1.19 PDGFRB Arina Puzriakova Source Expert Review Green was added to PDGFRB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 CIB2 Ivone Leong Tag for-review was removed from gene: CIB2.
Retinal disorders v2.243 TRIM32 Ivone Leong Tag for-review was removed from gene: TRIM32.
Retinal disorders v2.243 TUBGCP6 Ivone Leong Tag for-review was removed from gene: TUBGCP6.
Retinal disorders v2.243 PNPLA6 Ivone Leong Tag for-review was removed from gene: PNPLA6.
Retinal disorders v2.243 PLK4 Ivone Leong Tag for-review was removed from gene: PLK4.
Retinal disorders v2.243 MTTP Ivone Leong Tag for-review was removed from gene: MTTP.
Retinal disorders v2.243 LAMA1 Ivone Leong Tag for-review was removed from gene: LAMA1.
Retinal disorders v2.243 IFT27 Ivone Leong Tag for-review was removed from gene: IFT27.
Retinal disorders v2.243 IFT172 Ivone Leong Tag for-review was removed from gene: IFT172.
Retinal disorders v2.243 GNB3 Ivone Leong Tag for-review was removed from gene: GNB3.
Retinal disorders v2.243 CTNNA1 Ivone Leong Tag for-review was removed from gene: CTNNA1.
Tag Q1_22_NHS_review was removed from gene: CTNNA1.
Bilateral congenital or childhood onset cataracts v2.98 PLOD3 Ivone Leong Tag for-review was removed from gene: PLOD3.
Retinal disorders v2.243 CEP250 Ivone Leong Tag for-review was removed from gene: CEP250.
Retinal disorders v2.243 AFG3L2 Ivone Leong Tag for-review was removed from gene: AFG3L2.
Retinal disorders v2.243 ARL13B Ivone Leong Tag for-review was removed from gene: ARL13B.
Retinal disorders v2.243 MMACHC Ivone Leong Tag for-review was removed from gene: MMACHC.
Retinal disorders v2.243 IFT74 Ivone Leong Tag for-review was removed from gene: IFT74.
Retinal disorders v2.243 CTC1 Ivone Leong Tag for-review was removed from gene: CTC1.
Inherited polyposis and early onset colorectal cancer - germline testing v1.28 AXIN2 Arina Puzriakova Tag Q4_21_rating was removed from gene: AXIN2.
Inherited polyposis and early onset colorectal cancer - germline testing v1.28 AXIN2 Arina Puzriakova edited their review of gene: AXIN2: Changed rating: AMBER
Inherited polyposis and early onset colorectal cancer - germline testing v1.28 AXIN2 Arina Puzriakova commented on gene: AXIN2: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed as it was determined that there is insufficient evidence to rate as green on this panel - 'There does not seem to be strong grounds for including this gene as a green gene currently. heterozygous mutations in AXIN2 have very rarely been shown to cause ectodermal dysplasia (including tooth agenesis, or more specifically, oligodontia), and, in some carriers, colorectal cancer and/or adenomatous polyposis develops. Think including now would potentially be problematic in terms of interpretation. Very few reports even considering GEL submissions. May be better as a stand alone syndromic test? One to keep under review'
Retinal disorders v2.243 ALPK1 Ivone Leong Tag for-review was removed from gene: ALPK1.
Tag Q4_21_NHS_review was removed from gene: ALPK1.
Retinal disorders v2.243 ABCC6 Ivone Leong Tag for-review was removed from gene: ABCC6.
Retinal disorders v2.243 SLC6A6 Ivone Leong Tag for-review was removed from gene: SLC6A6.
Retinal disorders v2.243 USP45 Ivone Leong Tag for-review was removed from gene: USP45.
Retinal disorders v2.243 DRAM2 Ivone Leong Tag for-review was removed from gene: DRAM2.
Retinal disorders v2.243 TINF2 Ivone Leong Tag for-review was removed from gene: TINF2.
Retinal disorders v2.243 TMEM216 Ivone Leong Tag for-review was removed from gene: TMEM216.
Retinal disorders v2.243 ROM1 Ivone Leong Tag for-review was removed from gene: ROM1.
Retinal disorders v2.243 TUBGCP4 Ivone Leong Tag for-review was removed from gene: TUBGCP4.
Retinal disorders v2.243 TRNT1 Ivone Leong Tag for-review was removed from gene: TRNT1.
Retinal disorders v2.243 TREX1 Ivone Leong Tag for-review was removed from gene: TREX1.
Retinal disorders v2.243 PRDM13 Ivone Leong Tag for-review was removed from gene: PRDM13.
Retinal disorders v2.243 POMGNT1 Ivone Leong Tag for-review was removed from gene: POMGNT1.
Retinal disorders v2.243 PAX2 Ivone Leong Tag for-review was removed from gene: PAX2.
Retinal disorders v2.243 NEUROD1 Ivone Leong Tag for-review was removed from gene: NEUROD1.
Retinal disorders v2.243 TRAF3IP1 Ivone Leong Tag for-review was removed from gene: TRAF3IP1.
Retinal disorders v2.243 TMEM231 Ivone Leong Tag for-review was removed from gene: TMEM231.
Retinal disorders v2.243 RIMS2 Ivone Leong Tag for-review was removed from gene: RIMS2.
Retinal disorders v2.243 PEX6 Ivone Leong Tag for-review was removed from gene: PEX6.
Retinal disorders v2.243 HK1 Ivone Leong commented on gene: HK1: Submitted on behalf of NHS GMS "Amber or keep as green - dominant missense variant p.(Glu847Lys) reported many times in the literature." and "This gene is currently amber. It seems clear that the p.E847K variant is associated with retinal disease so I think that it should be green, even if retinal disease is restricted to this variant."
Retinal disorders v2.243 P3H2 Ivone Leong commented on gene: P3H2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 MSTO1 Ivone Leong commented on gene: MSTO1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 SSBP1 Ivone Leong commented on gene: SSBP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 HK1 Ivone Leong commented on gene: HK1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.Amber or keep as green - dominant missense variant p.(Glu847Lys) reported many times in the literature. This gene is currently amber. It seems clear that the p.E847K variant is associated with retinal disease so I think that it should be green, even if retinal disease is restricted to this variant.
Retinal disorders v2.243 CA4 Ivone Leong commented on gene: CA4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 HARS Ivone Leong commented on gene: HARS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 CIB2 Ivone Leong commented on gene: CIB2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 TRIM32 Ivone Leong commented on gene: TRIM32: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 TUBGCP6 Ivone Leong commented on gene: TUBGCP6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 PNPLA6 Ivone Leong commented on gene: PNPLA6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 PLK4 Ivone Leong commented on gene: PLK4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 MTTP Ivone Leong commented on gene: MTTP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 LAMA1 Ivone Leong commented on gene: LAMA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 IFT27 Ivone Leong commented on gene: IFT27: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 IFT172 Ivone Leong commented on gene: IFT172: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 GRN Ivone Leong commented on gene: GRN: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 GNB3 Ivone Leong commented on gene: GNB3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 CTNNA1 Ivone Leong commented on gene: CTNNA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 CEP250 Ivone Leong commented on gene: CEP250: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 ARL13B Ivone Leong commented on gene: ARL13B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 AFG3L2 Ivone Leong commented on gene: AFG3L2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 MMACHC Ivone Leong commented on gene: MMACHC: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 IFT74 Ivone Leong commented on gene: IFT74: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 CTC1 Ivone Leong commented on gene: CTC1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 ALPK1 Ivone Leong commented on gene: ALPK1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 ABCC6 Ivone Leong commented on gene: ABCC6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 SLC6A6 Ivone Leong commented on gene: SLC6A6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 USP45 Ivone Leong commented on gene: USP45: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 DRAM2 Ivone Leong commented on gene: DRAM2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 TINF2 Ivone Leong commented on gene: TINF2
Retinal disorders v2.243 TMEM216 Ivone Leong commented on gene: TMEM216: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 ROM1 Ivone Leong commented on gene: ROM1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 TUBGCP4 Ivone Leong commented on gene: TUBGCP4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 TRNT1 Ivone Leong commented on gene: TRNT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 TREX1 Ivone Leong commented on gene: TREX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 PRDM13 Ivone Leong commented on gene: PRDM13: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 POMGNT1 Ivone Leong commented on gene: POMGNT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 PAX2 Ivone Leong commented on gene: PAX2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 NEUROD1 Ivone Leong commented on gene: NEUROD1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 TRAF3IP1 Ivone Leong commented on gene: TRAF3IP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 TMEM231 Ivone Leong commented on gene: TMEM231: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 RIMS2 Ivone Leong commented on gene: RIMS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 PEX6 Ivone Leong commented on gene: PEX6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 P3H2 Ivone Leong Source Expert Review Green was added to P3H2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 MSTO1 Ivone Leong Source Expert Review Green was added to MSTO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 SSBP1 Ivone Leong Source Expert Review Green was added to SSBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 HK1 Ivone Leong Source Expert Review Green was added to HK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 CA4 Ivone Leong Source Expert Review Red was added to CA4.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Retinal disorders v2.243 HARS Ivone Leong Source Expert Review Red was added to HARS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Retinal disorders v2.243 CIB2 Ivone Leong Source Expert Review Red was added to CIB2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Retinal disorders v2.243 TRIM32 Ivone Leong Source Expert Review Red was added to TRIM32.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Retinal disorders v2.243 TUBGCP6 Ivone Leong Source Expert Review Green was added to TUBGCP6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 PNPLA6 Ivone Leong Source Expert Review Green was added to PNPLA6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 PLK4 Ivone Leong Source Expert Review Green was added to PLK4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 MTTP Ivone Leong Source Expert Review Green was added to MTTP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 LAMA1 Ivone Leong Source Expert Review Green was added to LAMA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 IFT27 Ivone Leong Source Expert Review Green was added to IFT27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 IFT172 Ivone Leong Source Expert Review Green was added to IFT172.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 GRN Ivone Leong Source Expert Review Green was added to GRN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 GNB3 Ivone Leong Source Expert Review Green was added to GNB3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 CTNNA1 Ivone Leong Source Expert Review Green was added to CTNNA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 CEP250 Ivone Leong Source Expert Review Green was added to CEP250.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 ARL13B Ivone Leong Source Expert Review Green was added to ARL13B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 AFG3L2 Ivone Leong Source Expert Review Green was added to AFG3L2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 MMACHC Ivone Leong Source Expert Review Green was added to MMACHC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 IFT74 Ivone Leong Source Expert Review Green was added to IFT74.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 CTC1 Ivone Leong Source Expert Review Green was added to CTC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 ALPK1 Ivone Leong Source Expert Review Green was added to ALPK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 ABCC6 Ivone Leong Source Expert Review Green was added to ABCC6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 SLC6A6 Ivone Leong Source Expert Review Green was added to SLC6A6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 USP45 Ivone Leong Source Expert Review Green was added to USP45.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 DRAM2 Ivone Leong Source Expert Review Green was added to DRAM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 TINF2 Ivone Leong Source Expert Review Green was added to TINF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 TMEM216 Ivone Leong Source Expert Review Green was added to TMEM216.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 ROM1 Ivone Leong Source Expert Review Green was added to ROM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 TUBGCP4 Ivone Leong Source Expert Review Green was added to TUBGCP4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 TRNT1 Ivone Leong Source Expert Review Green was added to TRNT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 TREX1 Ivone Leong Source Expert Review Green was added to TREX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 PRDM13 Ivone Leong Source Expert Review Green was added to PRDM13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 POMGNT1 Ivone Leong Source Expert Review Green was added to POMGNT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 PAX2 Ivone Leong Source Expert Review Green was added to PAX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 NEUROD1 Ivone Leong Source Expert Review Green was added to NEUROD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 TRAF3IP1 Ivone Leong Source Expert Review Green was added to TRAF3IP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 TMEM231 Ivone Leong Source Expert Review Green was added to TMEM231.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 RIMS2 Ivone Leong Source Expert Review Green was added to RIMS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 PEX6 Ivone Leong Source Expert Review Green was added to PEX6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Optic neuropathy v2.58 UCHL1 Ivone Leong Tag for-review was removed from gene: UCHL1.
Optic neuropathy v2.58 NBAS Ivone Leong Tag for-review was removed from gene: NBAS.
Optic neuropathy v2.58 MECR Ivone Leong Tag for-review was removed from gene: MECR.
Optic neuropathy v2.58 FDXR Ivone Leong Tag for-review was removed from gene: FDXR.
Optic neuropathy v2.58 AFG3L2 Ivone Leong Tag for-review was removed from gene: AFG3L2.
Optic neuropathy v2.58 UCHL1 Ivone Leong commented on gene: UCHL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Optic neuropathy v2.58 NBAS Ivone Leong commented on gene: NBAS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Optic neuropathy v2.58 MECR Ivone Leong commented on gene: MECR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Optic neuropathy v2.58 FDXR Ivone Leong commented on gene: FDXR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Optic neuropathy v2.58 AFG3L2 Ivone Leong commented on gene: AFG3L2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Optic neuropathy v2.57 UCHL1 Ivone Leong Source Expert Review Green was added to UCHL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Optic neuropathy v2.57 NBAS Ivone Leong Source Expert Review Green was added to NBAS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Optic neuropathy v2.57 MECR Ivone Leong Source Expert Review Green was added to MECR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Optic neuropathy v2.57 FDXR Ivone Leong Source Expert Review Green was added to FDXR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Optic neuropathy v2.57 AFG3L2 Ivone Leong Source Expert Review Green was added to AFG3L2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ophthalmological ciliopathies v1.27 IFT27 Ivone Leong Tag for-review was removed from gene: IFT27.
Ophthalmological ciliopathies v1.27 C8orf37 Ivone Leong Tag for-review was removed from gene: C8orf37.
Ophthalmological ciliopathies v1.27 IFT74 Ivone Leong Tag for-review was removed from gene: IFT74.
Ophthalmological ciliopathies v1.27 IFT74 Ivone Leong commented on gene: IFT74: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Ophthalmological ciliopathies v1.27 C8orf37 Ivone Leong commented on gene: C8orf37: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Ophthalmological ciliopathies v1.27 IFT27 Ivone Leong commented on gene: IFT27
Ophthalmological ciliopathies v1.27 IFT74 Ivone Leong Source Expert Review Green was added to IFT74.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ophthalmological ciliopathies v1.27 C8orf37 Ivone Leong Source Expert Review Green was added to C8orf37.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ophthalmological ciliopathies v1.27 IFT27 Ivone Leong Source Expert Review Green was added to IFT27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Corneal dystrophy v1.10 MIR184 Ivone Leong Tag for-review was removed from gene: MIR184.
Corneal dystrophy v1.10 MIR184 Ivone Leong commented on gene: MIR184: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Corneal dystrophy v1.9 MIR184 Ivone Leong Source Expert Review Red was added to MIR184.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Bilateral congenital or childhood onset cataracts v2.98 CTDP1 Ivone Leong Tag for-review was removed from gene: CTDP1.
Bilateral congenital or childhood onset cataracts v2.98 CTDP1 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. Retain as amber - c.863 + 389C > T is still the only variant associated with the relevant disorder and unclear if coding sequence variants would cause the same phenotype.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Bilateral congenital or childhood onset cataracts v2.98 EED Ivone Leong Tag for-review was removed from gene: EED.
Bilateral congenital or childhood onset cataracts v2.98 GEMIN4 Ivone Leong Tag for-review was removed from gene: GEMIN4.
Bilateral congenital or childhood onset cataracts v2.98 ZNF526 Ivone Leong Tag for-review was removed from gene: ZNF526.
Bilateral congenital or childhood onset cataracts v2.98 SREBF1 Ivone Leong Tag for-review was removed from gene: SREBF1.
Bilateral congenital or childhood onset cataracts v2.98 SLC16A12 Ivone Leong Tag for-review was removed from gene: SLC16A12.
Bilateral congenital or childhood onset cataracts v2.98 PIK3C2A Ivone Leong Tag for-review was removed from gene: PIK3C2A.
Bilateral congenital or childhood onset cataracts v2.98 GFER Ivone Leong Tag for-review was removed from gene: GFER.
Bilateral congenital or childhood onset cataracts v2.98 ABHD12 Ivone Leong Tag for-review was removed from gene: ABHD12.
Bilateral congenital or childhood onset cataracts v2.98 POLG Ivone Leong Tag for-review was removed from gene: POLG.
Bilateral congenital or childhood onset cataracts v2.98 NACC1 Ivone Leong Tag for-review was removed from gene: NACC1.
Bilateral congenital or childhood onset cataracts v2.98 INTS1 Ivone Leong Tag for-review was removed from gene: INTS1.
Bilateral congenital or childhood onset cataracts v2.98 COG4 Ivone Leong Tag for-review was removed from gene: COG4.
Bilateral congenital or childhood onset cataracts v2.98 ANAPC1 Ivone Leong Tag for-review was removed from gene: ANAPC1.
Bilateral congenital or childhood onset cataracts v2.98 NUP188 Ivone Leong Tag for-review was removed from gene: NUP188.
Bilateral congenital or childhood onset cataracts v2.98 ATAD3A Ivone Leong Tag for-review was removed from gene: ATAD3A.
Bilateral congenital or childhood onset cataracts v2.98 VPS4A Ivone Leong Tag for-review was removed from gene: VPS4A.
Bilateral congenital or childhood onset cataracts v2.98 CTDP1 Ivone Leong commented on gene: CTDP1: Submitted on behalf of NHS GMS "Retain as amber - c.863 + 389C > T is still the only variant associated with the relevant disorder and unclear if coding sequence variants would cause the same phenotype."
Bilateral congenital or childhood onset cataracts v2.98 ANAPC1 Ivone Leong commented on gene: ANAPC1: Submitted on behalf of NHS GMS "Please note that there is a common deep intronic variant."
Bilateral congenital or childhood onset cataracts v2.98 CTDP1 Ivone Leong commented on gene: CTDP1: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. Retain as amber - c.863 + 389C > T is still the only variant associated with the relevant disorder and unclear if coding sequence variants would cause the same phenotype.
Bilateral congenital or childhood onset cataracts v2.98 EED Ivone Leong commented on gene: EED: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 GEMIN4 Ivone Leong commented on gene: GEMIN4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 ZNF526 Ivone Leong commented on gene: ZNF526
Bilateral congenital or childhood onset cataracts v2.98 SREBF1 Ivone Leong commented on gene: SREBF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 SLC16A12 Ivone Leong commented on gene: SLC16A12: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 PIK3C2A Ivone Leong commented on gene: PIK3C2A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 GFER Ivone Leong commented on gene: GFER: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 ABHD12 Ivone Leong commented on gene: ABHD12: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 POLG Ivone Leong commented on gene: POLG: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 PLOD3 Ivone Leong commented on gene: PLOD3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 NACC1 Ivone Leong commented on gene: NACC1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 INTS1 Ivone Leong commented on gene: INTS1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 COG4 Ivone Leong commented on gene: COG4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 ANAPC1 Ivone Leong commented on gene: ANAPC1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.Please note that there is a common deep intronic variant
Bilateral congenital or childhood onset cataracts v2.98 NUP188 Ivone Leong commented on gene: NUP188
Bilateral congenital or childhood onset cataracts v2.98 ATAD3A Ivone Leong commented on gene: ATAD3A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 VPS4A Ivone Leong commented on gene: VPS4A
Bilateral congenital or childhood onset cataracts v2.97 EED Ivone Leong Source Expert Review Red was added to EED.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Bilateral congenital or childhood onset cataracts v2.97 GEMIN4 Ivone Leong Source Expert Review Amber was added to GEMIN4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.97 ZNF526 Ivone Leong Source Expert Review Green was added to ZNF526.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 SREBF1 Ivone Leong Source Expert Review Green was added to SREBF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 SLC16A12 Ivone Leong Source Expert Review Green was added to SLC16A12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 PIK3C2A Ivone Leong Source Expert Review Green was added to PIK3C2A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 GFER Ivone Leong Source Expert Review Green was added to GFER.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 ABHD12 Ivone Leong Source Expert Review Green was added to ABHD12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 POLG Ivone Leong Source Expert Review Green was added to POLG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 PLOD3 Ivone Leong Source Expert Review Green was added to PLOD3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 NACC1 Ivone Leong Source Expert Review Green was added to NACC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 INTS1 Ivone Leong Source Expert Review Green was added to INTS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 COG4 Ivone Leong Source Expert Review Green was added to COG4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 ANAPC1 Ivone Leong Source Expert Review Green was added to ANAPC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 NUP188 Ivone Leong Source Expert Review Green was added to NUP188.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 ATAD3A Ivone Leong Source Expert Review Green was added to ATAD3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 VPS4A Ivone Leong Source Expert Review Green was added to VPS4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bardet Biedl syndrome v1.13 IFT27 Ivone Leong Tag for-review was removed from gene: IFT27.
Bardet Biedl syndrome v1.13 IFT74 Ivone Leong Tag for-review was removed from gene: IFT74.
Bardet Biedl syndrome v1.13 IFT74 Ivone Leong commented on gene: IFT74: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bardet Biedl syndrome v1.13 IFT27 Ivone Leong commented on gene: IFT27: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bardet Biedl syndrome v1.12 IFT74 Ivone Leong Source Expert Review Green was added to IFT74.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bardet Biedl syndrome v1.12 IFT27 Ivone Leong Source Expert Review Green was added to IFT27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v2.75 TRIM8 Eleanor Williams Tag Q4_21_rating was removed from gene: TRIM8.
Proteinuric renal disease v2.75 LCAT Eleanor Williams Tag Q4_21_rating was removed from gene: LCAT.
Tag Q4_21_NHS_review was removed from gene: LCAT.
Proteinuric renal disease v2.75 TRIM8 Eleanor Williams commented on gene: TRIM8
Proteinuric renal disease v2.75 LCAT Eleanor Williams commented on gene: LCAT: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Proteinuric renal disease v2.74 TRIM8 Eleanor Williams Source Expert Review Green was added to TRIM8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v2.74 LCAT Eleanor Williams Source Expert Review Green was added to LCAT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v2.73 YRDC Eleanor Williams Phenotypes for gene: YRDC were changed from Galloway-Mowat syndrome to Galloway-Mowat syndrome MONDO:0009627
Proteinuric renal disease v2.72 YRDC Eleanor Williams Tag for-review was removed from gene: YRDC.
Proteinuric renal disease v2.72 GON7 Eleanor Williams Tag for-review was removed from gene: GON7.
Proteinuric renal disease v2.72 APOL1 Eleanor Williams Mode of pathogenicity for gene: APOL1 was changed from to Other
Proteinuric renal disease v2.71 APOL1 Eleanor Williams Tag for-review was removed from gene: APOL1.
Proteinuric renal disease v2.71 DAAM2 Eleanor Williams Tag for-review was removed from gene: DAAM2.
Proteinuric renal disease v2.71 FN1 Eleanor Williams Phenotypes for gene: FN1 were changed from Glomerulopathy with fibronectin deposits 2, 601894 to Glomerulopathy with fibronectin deposits 2, OMIM:601894
Proteinuric renal disease v2.70 FN1 Eleanor Williams Tag for-review was removed from gene: FN1.
Proteinuric renal disease v2.70 APOE Eleanor Williams Phenotypes for gene: APOE were changed from Lipoprotein glomerulopathy, MIM# 611771 to Lipoprotein glomerulopathy, OMIM:611771
Proteinuric renal disease v2.69 APOE Eleanor Williams Tag for-review was removed from gene: APOE.
Proteinuric renal disease v2.69 TPRKB Eleanor Williams Phenotypes for gene: TPRKB were changed from Galloway-Mowat syndrome 5 #617731 to Galloway-Mowat syndrome 5, OMIM:617731
Proteinuric renal disease v2.68 TPRKB Eleanor Williams Tag for-review was removed from gene: TPRKB.
Proteinuric renal disease v2.68 CD151 Eleanor Williams Tag for-review was removed from gene: CD151.
Tag Q3_21_NHS_review was removed from gene: CD151.
Proteinuric renal disease v2.68 DGKE Eleanor Williams Phenotypes for gene: DGKE were changed from Nephrotic syndrome, type 7 #615008 to Nephrotic syndrome, type 7, OMIM:615008
Proteinuric renal disease v2.67 DGKE Eleanor Williams Tag for-review was removed from gene: DGKE.
Proteinuric renal disease v2.67 AMN Eleanor Williams Phenotypes for gene: AMN were changed from Megaloblastic anemia-1, Norwegian type, 261100; (originally on the Imerslund-Grasbeck syndrome gene panel) to Megaloblastic anemia-1, Norwegian type, OMIM:261100
Proteinuric renal disease v2.66 AMN Eleanor Williams Tag for-review was removed from gene: AMN.
Proteinuric renal disease v2.66 YRDC Eleanor Williams commented on gene: YRDC: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Proteinuric renal disease v2.66 GON7 Eleanor Williams commented on gene: GON7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Proteinuric renal disease v2.66 APOL1 Eleanor Williams commented on gene: APOL1: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Proteinuric renal disease v2.66 DAAM2 Eleanor Williams commented on gene: DAAM2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Proteinuric renal disease v2.66 FN1 Eleanor Williams commented on gene: FN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Proteinuric renal disease v2.66 APOE Eleanor Williams commented on gene: APOE: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Proteinuric renal disease v2.66 TPRKB Eleanor Williams commented on gene: TPRKB: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Proteinuric renal disease v2.66 CD151 Eleanor Williams commented on gene: CD151: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Proteinuric renal disease v2.66 DGKE Eleanor Williams commented on gene: DGKE: The rating of this gene has been updated following NHS Genomic Medicine Service approval. The reviewers note and overlap with aHUS
Proteinuric renal disease v2.66 AMN Eleanor Williams commented on gene: AMN: The rating of this gene has been updated following NHS Genomic Medicine Service approval. The reviewers note that a homozygous splice variant in patient with Imerslund-Grasbeck syndrome has been reported.
Proteinuric renal disease v2.65 YRDC Eleanor Williams Source Expert Review Green was added to YRDC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v2.65 GON7 Eleanor Williams Source Expert Review Green was added to GON7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v2.65 DAAM2 Eleanor Williams Source Expert Review Green was added to DAAM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v2.65 FN1 Eleanor Williams Source Expert Review Green was added to FN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v2.65 APOE Eleanor Williams Source Expert Review Green was added to APOE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v2.65 TPRKB Eleanor Williams Source Expert Review Green was added to TPRKB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v2.65 CD151 Eleanor Williams Source Expert Review Green was added to CD151.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v2.65 DGKE Eleanor Williams Source Expert Review Green was added to DGKE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v2.65 AMN Eleanor Williams Source Expert Review Green was added to AMN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Nephrocalcinosis or nephrolithiasis v2.32 MOCOS Eleanor Williams Tag Q3_21_rating was removed from gene: MOCOS.
Tag Q3_21_NHS_review was removed from gene: MOCOS.
Nephrocalcinosis or nephrolithiasis v2.32 MOCOS Eleanor Williams commented on gene: MOCOS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Nephrocalcinosis or nephrolithiasis v2.31 MOCOS Eleanor Williams Source Expert Review Green was added to MOCOS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Nephrocalcinosis or nephrolithiasis v2.30 HNF4A Eleanor Williams Phenotypes for gene: HNF4A were changed from Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026
Nephrocalcinosis or nephrolithiasis v2.29 HNF4A Eleanor Williams Tag for-review was removed from gene: HNF4A.
Nephrocalcinosis or nephrolithiasis v2.29 VPS33B Eleanor Williams Phenotypes for gene: VPS33B were changed from Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 to Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085
Nephrocalcinosis or nephrolithiasis v2.28 VPS33B Eleanor Williams Tag for-review was removed from gene: VPS33B.
Nephrocalcinosis or nephrolithiasis v2.28 VIPAS39 Eleanor Williams Phenotypes for gene: VIPAS39 were changed from Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 to Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404
Nephrocalcinosis or nephrolithiasis v2.27 VIPAS39 Eleanor Williams Tag for-review was removed from gene: VIPAS39.
Nephrocalcinosis or nephrolithiasis v2.27 VIPAS39 Eleanor Williams commented on gene: VIPAS39
Nephrocalcinosis or nephrolithiasis v2.27 VPS33B Eleanor Williams commented on gene: VPS33B
Nephrocalcinosis or nephrolithiasis v2.27 HNF4A Eleanor Williams commented on gene: HNF4A: The rating of this gene has been updated following NHS Genomic Medicine Service approval. The reviewers note that nephrocalcinosis is a feature of Fanconi renotubular syndrome.
Nephrocalcinosis or nephrolithiasis v2.26 VIPAS39 Eleanor Williams Source Expert Review Green was added to VIPAS39.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Nephrocalcinosis or nephrolithiasis v2.26 VPS33B Eleanor Williams Source Expert Review Green was added to VPS33B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Nephrocalcinosis or nephrolithiasis v2.26 HNF4A Eleanor Williams Source Expert Review Green was added to HNF4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.242 SLC38A8 Mohammed Derar reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: None; Publications: Poulter et al (2013) (PMID: 24290379), Campbell et al. (2019) (DOI: 31719542); Phenotypes: foveal hypoplasia, chiasmal misrouting, anterior segment dysgenesis, nystagmus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.242 FRMD7 Mohammed Derar gene: FRMD7 was added
gene: FRMD7 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: FRMD7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FRMD7 were set to Choi et al. (2018) (PMID: 30025138); Thomas et al. (2014) (PMID:24688117)
Phenotypes for gene: FRMD7 were set to Infantile nystagmus; foveal hypoplasia
Penetrance for gene: FRMD7 were set to unknown
Review for gene: FRMD7 was set to GREEN
Added comment: Mutations in FRMD7 are known to cause infantile nystagmus in an X-linked inheritance (Choi et al., 2018). Recently, with the aid of spectral domain OCT, patients with missense, splice site and nonsense variants in FRMD7 showed a shallow foveal pit diagnosed as grade 1foveal hypoplasia (Thomas et al., 2014)
Sources: Literature
Retinal disorders v2.242 AHR Mohammed Derar reviewed gene: AHR: Rating: GREEN; Mode of pathogenicity: None; Publications: Zhou et al. (2018) (PMID: 29726989), Mayer et al. (2019) (PMID: 31009037); Phenotypes: Retinitis pigmentosa, Foveal hypoplasia, infantile nystagmus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.242 PAX6 Mohammed Derar reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: Hingorani et al. (2009) (PMID: 19218613), Thomas et al (2014) (PMID: 23942204); Phenotypes: foveal hypoplasia, optic nerve hypoplasia, anirdia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cystic kidney disease v2.35 FLCN Eleanor Williams Tag Q2_21_rating was removed from gene: FLCN.
Tag Q2_21_NHS_review was removed from gene: FLCN.
Cystic kidney disease v2.35 FLCN Eleanor Williams commented on gene: FLCN: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cystic kidney disease v2.34 FLCN Eleanor Williams Source Expert Review Green was added to FLCN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cystic kidney disease v2.33 COL4A4 Eleanor Williams Tag for-review was removed from gene: COL4A4.
Cystic kidney disease v2.33 ALG9 Eleanor Williams Tag for-review was removed from gene: ALG9.
Cystic kidney disease v2.33 ALG8 Eleanor Williams Tag for-review was removed from gene: ALG8.
Cystic kidney disease v2.33 SEC61A1 Eleanor Williams commented on gene: SEC61A1: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Cystic kidney disease v2.33 COL4A4 Eleanor Williams commented on gene: COL4A4: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. The reviewers note that only 1 patient reported where they would be classed as AD-PKD. The other 3 are primarily TBMN patients who also have renal cysts.
Cystic kidney disease v2.33 ALG9 Eleanor Williams commented on gene: ALG9: The rating and mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Cystic kidney disease v2.33 ALG8 Eleanor Williams commented on gene: ALG8: The rating and mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Cystic kidney disease v2.32 SEC61A1 Eleanor Williams Source Expert list was added to SEC61A1.
Cystic kidney disease v2.32 ALG9 Eleanor Williams Source Expert Review Green was added to ALG9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cystic kidney disease v2.32 ALG8 Eleanor Williams Source Expert Review Green was added to ALG8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v2.64 EMP2 Daniel Gale reviewed gene: EMP2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31508419, 24814193, 29058154; Phenotypes: Proteinuric renal disease, Unexplained paediatric onset end-stage renal disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Skeletal dysplasia v2.186 SNRPB Eleanor Williams commented on gene: SNRPB: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.186 FGFR2 Eleanor Williams commented on gene: FGFR2: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.186 COL11A2 Eleanor Williams commented on gene: COL11A2: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.185 SNRPB Eleanor Williams Mode of inheritance for gene SNRPB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia v2.185 FGFR2 Eleanor Williams Mode of inheritance for gene FGFR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia v2.185 COL11A2 Eleanor Williams Mode of inheritance for gene COL11A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v2.184 PRKG2 Eleanor Williams Tag Q4_21_NHS_review was removed from gene: PRKG2.
Skeletal dysplasia v2.184 MBTPS2 Eleanor Williams Tag Q3_21_rating was removed from gene: MBTPS2.
Tag Q3_21_expert_review was removed from gene: MBTPS2.
Skeletal dysplasia v2.184 MESD Eleanor Williams Tag Q3_21_rating was removed from gene: MESD.
Tag Q3_21_NHS_review was removed from gene: MESD.
Skeletal dysplasia v2.184 ZNF687 Eleanor Williams Tag Q4_21_rating was removed from gene: ZNF687.
Tag Q4_21_NHS_review was removed from gene: ZNF687.
Skeletal dysplasia v2.184 WBP11 Eleanor Williams Tag Q2_21_rating was removed from gene: WBP11.
Skeletal dysplasia v2.184 UNC45A Eleanor Williams Tag Q3_21_rating was removed from gene: UNC45A.
Tag Q3_21_NHS_review was removed from gene: UNC45A.
Skeletal dysplasia v2.184 UFSP2 Eleanor Williams Tag Q2_21_rating was removed from gene: UFSP2.
Skeletal dysplasia v2.184 SGMS2 Eleanor Williams Tag Q3_21_rating was removed from gene: SGMS2.
Skeletal dysplasia v2.184 SCUBE3 Eleanor Williams Tag Q2_21_rating was removed from gene: SCUBE3.
Skeletal dysplasia v2.184 MYO18B Eleanor Williams Tag Q3_21_rating was removed from gene: MYO18B.
Skeletal dysplasia v2.184 LTBP1 Eleanor Williams Tag Q2_21_rating was removed from gene: LTBP1.
Skeletal dysplasia v2.184 LRRK1 Eleanor Williams Tag Q3_21_rating was removed from gene: LRRK1.
Tag Q3_21_NHS_review was removed from gene: LRRK1.
Skeletal dysplasia v2.184 FBN2 Eleanor Williams Tag Q2_21_MOI was removed from gene: FBN2.
Skeletal dysplasia v2.184 DSPP Eleanor Williams Tag Q3_21_expert_review was removed from gene: DSPP.
Skeletal dysplasia v2.184 DLX5 Eleanor Williams Tag Q3_21_MOI was removed from gene: DLX5.
Tag Q3_21_NHS_review was removed from gene: DLX5.
Skeletal dysplasia v2.184 COPB2 Eleanor Williams commented on gene: COPB2: Updating the mode of inheritance of this gene to both Mono and biallelic should be considered
Skeletal dysplasia v2.184 COPB2 Eleanor Williams Tag Q3_21_rating was removed from gene: COPB2.
Tag Q1_22_MOI tag was added to gene: COPB2.
Skeletal dysplasia v2.184 ARCN1 Eleanor Williams Tag Q3_21_rating was removed from gene: ARCN1.
Skeletal dysplasia v2.184 ZNF687 Eleanor Williams commented on gene: ZNF687: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.184 WBP11 Eleanor Williams commented on gene: WBP11: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.184 UNC45A Eleanor Williams commented on gene: UNC45A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.184 UFSP2 Eleanor Williams commented on gene: UFSP2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.184 SGMS2 Eleanor Williams commented on gene: SGMS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.184 SCUBE3 Eleanor Williams commented on gene: SCUBE3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.184 MYO18B Eleanor Williams commented on gene: MYO18B
Skeletal dysplasia v2.184 MESD Eleanor Williams commented on gene: MESD: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.184 MBTPS2 Eleanor Williams commented on gene: MBTPS2: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. It has been agreed to keep this gene as amber at this time.
Skeletal dysplasia v2.184 LTBP1 Eleanor Williams commented on gene: LTBP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.184 LRRK1 Eleanor Williams commented on gene: LRRK1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.184 FBN2 Eleanor Williams commented on gene: FBN2: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.184 DSPP Eleanor Williams commented on gene: DSPP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.184 DLX5 Eleanor Williams commented on gene: DLX5: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.184 COPB2 Eleanor Williams commented on gene: COPB2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.184 ARCN1 Eleanor Williams commented on gene: ARCN1
Skeletal dysplasia v2.183 ZNF687 Eleanor Williams Source Expert Review Green was added to ZNF687.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.183 WBP11 Eleanor Williams Source Expert Review Green was added to WBP11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.183 UNC45A Eleanor Williams Source Expert Review Green was added to UNC45A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.183 UFSP2 Eleanor Williams Source Expert Review Green was added to UFSP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.183 SGMS2 Eleanor Williams Source Expert Review Green was added to SGMS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.183 SCUBE3 Eleanor Williams Source Expert Review Green was added to SCUBE3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.183 MYO18B Eleanor Williams Source Expert Review Green was added to MYO18B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.183 MESD Eleanor Williams Source Expert Review Green was added to MESD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.183 LTBP1 Eleanor Williams Source Expert Review Green was added to LTBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.183 LRRK1 Eleanor Williams Source Expert Review Green was added to LRRK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.183 FBN2 Eleanor Williams Mode of inheritance for gene FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v2.183 DSPP Eleanor Williams Source Expert Review Red was added to DSPP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Skeletal dysplasia v2.183 DLX5 Eleanor Williams Mode of inheritance for gene DLX5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v2.183 COPB2 Eleanor Williams Source Expert Review Green was added to COPB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.183 ARCN1 Eleanor Williams Source Expert Review Green was added to ARCN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.182 TBXAS1 Eleanor Williams Phenotypes for gene: TBXAS1 were changed from Ghosal hematodiaphyseal syndrome 231095 to Ghosal hematodiaphyseal syndrome, OMIM:231095
Skeletal dysplasia v2.181 TBXAS1 Eleanor Williams Tag for-review was removed from gene: TBXAS1.
Skeletal dysplasia v2.181 TBXAS1 Eleanor Williams changed review comment from: The mode of inheritance of this gene has been updated followingNHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.181 KIAA1217 Eleanor Williams Tag for-review was removed from gene: KIAA1217.
Skeletal dysplasia v2.181 HS2ST1 Eleanor Williams Phenotypes for gene: HS2ST1 were changed from Intellectual disability; dysmorphic features; congenital anomalies to Intellectual disability; dysmorphic features; congenital anomalies; Neurofacioskeletal syndrome with or without renal agenesis,OMIM:619194
Skeletal dysplasia v2.180 HS2ST1 Eleanor Williams Tag for-review was removed from gene: HS2ST1.
Skeletal dysplasia v2.180 GZF1 Eleanor Williams Tag for-review was removed from gene: GZF1.
Skeletal dysplasia v2.180 PRKG2 Eleanor Williams Tag for-review was removed from gene: PRKG2.
Skeletal dysplasia v2.180 MTX2 Eleanor Williams Phenotypes for gene: MTX2 were changed from Skeletal dysplasia; Mandibuloacral dysplasia; lipodystrophy; arterial calcification to Skeletal dysplasia; Mandibuloacral dysplasia; lipodystrophy; arterial calcification; Mandibuloacral dysplasia progeroid syndrome, OMIM:619127
Skeletal dysplasia v2.179 MTX2 Eleanor Williams Tag for-review was removed from gene: MTX2.
Skeletal dysplasia v2.179 KDELR2 Eleanor Williams Tag for-review was removed from gene: KDELR2.
Skeletal dysplasia v2.179 PISD Eleanor Williams Phenotypes for gene: PISD were changed from Liberfarb syndrome, 618889 to Liberfarb syndrome, OMIM:618889
Skeletal dysplasia v2.178 PISD Eleanor Williams Tag for-review was removed from gene: PISD.
Skeletal dysplasia v2.178 TONSL Eleanor Williams Tag for-review was removed from gene: TONSL.
Skeletal dysplasia v2.178 NXN Eleanor Williams Phenotypes for gene: NXN were changed from Robinow syndrome, autosomal recessive 2 618529 to Robinow syndrome, autosomal recessive 2, OMIM:618529
Skeletal dysplasia v2.177 NXN Eleanor Williams Tag for-review was removed from gene: NXN.
Skeletal dysplasia v2.177 CSGALNACT1 Eleanor Williams Tag for-review was removed from gene: CSGALNACT1.
Skeletal dysplasia v2.177 COG4 Eleanor Williams Tag for-review was removed from gene: COG4.
Skeletal dysplasia v2.177 NPR3 Eleanor Williams Tag for-review was removed from gene: NPR3.
Skeletal dysplasia v2.177 SMAD6 Eleanor Williams Phenotypes for gene: SMAD6 were changed from Radioulnar synostosis to {Radioulnar synostosis, nonsyndromic}, OMIM:179300
Skeletal dysplasia v2.176 SMAD6 Eleanor Williams Tag for-review was removed from gene: SMAD6.
Skeletal dysplasia v2.176 RINT1 Eleanor Williams Tag for-review was removed from gene: RINT1.
Skeletal dysplasia v2.176 MBTPS1 Eleanor Williams Tag for-review was removed from gene: MBTPS1.
Skeletal dysplasia v2.176 POLR1B Eleanor Williams Tag for-review was removed from gene: POLR1B.
Skeletal dysplasia v2.176 PKDCC Eleanor Williams Tag for-review was removed from gene: PKDCC.
Skeletal dysplasia v2.176 HS2ST1 Eleanor Williams commented on gene: HS2ST1
Skeletal dysplasia v2.176 TBXAS1 Eleanor Williams commented on gene: TBXAS1: The mode of inheritance of this gene has been updated followingNHS Genomic Medicine Service approval.
Skeletal dysplasia v2.176 KIAA1217 Eleanor Williams commented on gene: KIAA1217: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been demoted to red as per reviewer recommendation.
Skeletal dysplasia v2.176 GZF1 Eleanor Williams commented on gene: GZF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.176 PRKG2 Eleanor Williams commented on gene: PRKG2
Skeletal dysplasia v2.176 MTX2 Eleanor Williams commented on gene: MTX2
Skeletal dysplasia v2.176 KDELR2 Eleanor Williams commented on gene: KDELR2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.176 PISD Eleanor Williams commented on gene: PISD
Skeletal dysplasia v2.176 TONSL Eleanor Williams commented on gene: TONSL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.176 NXN Eleanor Williams commented on gene: NXN
Skeletal dysplasia v2.176 CSGALNACT1 Eleanor Williams commented on gene: CSGALNACT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.176 COG4 Eleanor Williams commented on gene: COG4
Skeletal dysplasia v2.176 NPR3 Eleanor Williams commented on gene: NPR3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.176 SMAD6 Eleanor Williams commented on gene: SMAD6
Skeletal dysplasia v2.176 RINT1 Eleanor Williams commented on gene: RINT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.176 MBTPS1 Eleanor Williams commented on gene: MBTPS1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.176 POLR1B Eleanor Williams commented on gene: POLR1B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.176 PKDCC Eleanor Williams commented on gene: PKDCC: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.175 TBXAS1 Eleanor Williams Mode of inheritance for gene TBXAS1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v2.175 KIAA1217 Eleanor Williams Source Expert Review Red was added to KIAA1217.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Skeletal dysplasia v2.175 HS2ST1 Eleanor Williams Source Expert Review Green was added to HS2ST1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 GZF1 Eleanor Williams Source Expert Review Green was added to GZF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 PRKG2 Eleanor Williams Source Expert Review Green was added to PRKG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 MTX2 Eleanor Williams Source Expert Review Green was added to MTX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 KDELR2 Eleanor Williams Source Expert Review Green was added to KDELR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 PISD Eleanor Williams Source Expert Review Green was added to PISD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 TONSL Eleanor Williams Source Expert Review Green was added to TONSL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 NXN Eleanor Williams Source Expert Review Green was added to NXN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 CSGALNACT1 Eleanor Williams Source Expert Review Green was added to CSGALNACT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 COG4 Eleanor Williams Source Expert Review Green was added to COG4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 NPR3 Eleanor Williams Source Expert Review Green was added to NPR3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 SMAD6 Eleanor Williams Source Expert Review Green was added to SMAD6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 RINT1 Eleanor Williams Source Expert Review Green was added to RINT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 MBTPS1 Eleanor Williams Source Expert Review Green was added to MBTPS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 POLR1B Eleanor Williams Source Expert Review Green was added to POLR1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 PKDCC Eleanor Williams Source Expert Review Green was added to PKDCC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1506 PDZD8 Konstantinos Varvagiannis changed review comment from: Al-Amri et al (2022 - PMID: 35227461) describe 4 affected individuals, belonging to 2 independent consanguineous families, harboring biallelic pLoF PDZD8 variants. The phenotype corresponded to a syndromic form of ID with autistic features. Animal models provide additional evidence for a role of the gene.

Details are provided concerning 3 affected sibs born to consanguineous parents (Fam-A) and a male proband born to first cousin parents (Fam-B) from different countries of the Arabian Peninsula.

Features included DD (4/4), ID (4/4 - moderate to severe), autistic features[*](4/4), other behavioral problems (3/4 - 2 families). Variable facial features were observed (4/4 - incl. hypertelorism 4/4, myopathic face, open mouth, low-set ears, ptosis). 3 sibs presented with myopathy[*](3/4 overall - 1 fam - see below), and marfanoid habitus was observed in 2 (2/4 - 1 fam). 2 sibs had epilepsy (2/4 - from 1 family). 1 individual had congenital heart defect. [* -also to consider for MOI]Autistic features were however observed in a parent and a htz sib. Mild myopathy/reduced facial expression was also observed in both parents. Contribution of another variant - also within the region of shared homozygosity - to the phenotype of myopathy was deemed to be possible within this family.

Previous genetic testing was not reported.

Homozygosity mapping in the 1st family identified 3 homozygous regions (2.57 - 28 Mb) shared by all affected sibs. Singleton WES revealed 2 candidate variants within these regions, a PDZD8 frameshift variant [NM_173791.5:c.2197_2200del;p.(S733*)] lying in the last exon and an ANKRD2 missense one (discussed above).

The proband in Fam-B was hmz for a nonsense variant in ex2 (of 5), namely c.894C>G/p.(Y298*) considered to be the most likely cause of his phenotype following singleton WES.

Sanger sequencing was used for validation and segregation studies confirming carrier status of the parents and compatible results in unaffected sibs (tested : 2 in Fam-A, 3 in Fam-B).

Both variants were absent from gnomAD (the first also from a pool of 50 control individuals of the same origin) where PDZD8 has a pLI of 1 (5 different pLoF variants, none hmz).

Expression was not studied for the 2 variants. As a result, it is not known whether they escape NMD (as could be expected for the variant in the last exon).

PDZD8 encodes an endoplasmatic reticulum (ER) transmembrane protein (TM). As the authors discuss, it has been previously shown that depletion of PDZD8 in neurons impairs endosomal homeostasis, decreases proximity of ER-mitochondria and decreases Ca+2 uptake mitochondria following synaptic transmission-induced release from the ER (sev. refs. provided).

The gene is highly expressed in the human brain (incl. subclasses of GABAergic / glutamatergic neurons in adult primary motor cortex). The authors analyzed RNA-seq data from the BrainSpan project, demonstrating stable expression in human brain from 8 wks after conception to adulthood. The gene is not expressed in blood.

The authors performed in vivo functional studies. Knockdown of the orthologous gene (CG10362) in Drosophila via RNA interference was shown to result in impairment of long-term memory. Mice homozygous for a variant introducing a premature termination codon exhibited restricted growth, brain structural alterations (incl. relative reduction of the CC, as in one subject), spontaneous stereotypies, decreased anxiety-like behavior with deficits in spatial memory and impaired hippocampal neurophysiology.

Currently, there is no associated phenotype in OMIM, Gene2Phenotype, SysID or PanelApp Australia.

Overall, this gene can be considered for inclusion in the ID panel probably with amber rating pending further reports.
Sources: Literature; to: Al-Amri et al (2022 - PMID: 35227461) describe 4 affected individuals, belonging to 2 independent consanguineous families, harboring biallelic pLoF PDZD8 variants. The phenotype corresponded to a syndromic form of ID with autistic features. Animal models provide additional evidence for a role of the gene.

Details are provided concerning 3 affected sibs born to consanguineous parents (Fam-A) and a male proband born to first cousin parents (Fam-B) from different countries of the Arabian Peninsula.

Features included DD (4/4), ID (4/4 - moderate to severe), autistic features[*](4/4), other behavioral problems (3/4 - 2 families). Variable facial features were observed (4/4 - incl. hypertelorism 4/4, myopathic face, open mouth, low-set ears, ptosis). 3 sibs presented with myopathy[*](3/4 overall - 1 fam - see below), and marfanoid habitus was observed in 2 (2/4 - 1 fam). 2 sibs had epilepsy (2/4 - from 1 family). 1 individual had congenital heart defect. [*] (also to consider for MOI) : Autistic features were however observed in a parent and a htz sib. Mild myopathy/reduced facial expression was also observed in both parents. Contribution of another variant - also within the region of shared homozygosity - to the phenotype of myopathy was deemed to be possible within this family.

Previous genetic testing was not reported.

Homozygosity mapping in the 1st family identified 3 homozygous regions (2.57 - 28 Mb) shared by all affected sibs. Singleton WES revealed 2 candidate variants within these regions, a PDZD8 frameshift variant [NM_173791.5:c.2197_2200del;p.(S733*)] lying in the last exon and an ANKRD2 missense one (discussed above).

The proband in Fam-B was hmz for a nonsense variant in ex2 (of 5), namely c.894C>G/p.(Y298*) considered to be the most likely cause of his phenotype following singleton WES.

Sanger sequencing was used for validation and segregation studies confirming carrier status of the parents and compatible results in unaffected sibs (tested : 2 in Fam-A, 3 in Fam-B).

Both variants were absent from gnomAD (the first also from a pool of 50 control individuals of the same origin) where PDZD8 has a pLI of 1 (5 different pLoF variants, none hmz).

Expression was not studied for the 2 variants. As a result, it is not known whether they escape NMD (as could be expected for the variant in the last exon).

PDZD8 encodes an endoplasmatic reticulum (ER) transmembrane protein (TM). As the authors discuss, it has been previously shown that depletion of PDZD8 in neurons impairs endosomal homeostasis, decreases proximity of ER-mitochondria and decreases Ca+2 uptake mitochondria following synaptic transmission-induced release from the ER (sev. refs. provided).

The gene is highly expressed in the human brain (incl. subclasses of GABAergic / glutamatergic neurons in adult primary motor cortex). The authors analyzed RNA-seq data from the BrainSpan project, demonstrating stable expression in human brain from 8 wks after conception to adulthood. The gene is not expressed in blood.

The authors performed in vivo functional studies. Knockdown of the orthologous gene (CG10362) in Drosophila via RNA interference was shown to result in impairment of long-term memory. Mice homozygous for a variant introducing a premature termination codon exhibited restricted growth, brain structural alterations (incl. relative reduction of the CC, as in one subject), spontaneous stereotypies, decreased anxiety-like behavior with deficits in spatial memory and impaired hippocampal neurophysiology.

Currently, there is no associated phenotype in OMIM, Gene2Phenotype, SysID or PanelApp Australia.

Overall, this gene can be considered for inclusion in the ID panel probably with amber rating pending further reports.
Sources: Literature
Intellectual disability v3.1506 PDZD8 Konstantinos Varvagiannis gene: PDZD8 was added
gene: PDZD8 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: PDZD8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDZD8 were set to 35227461
Phenotypes for gene: PDZD8 were set to Global developmental delay; Intellectual disability; Autistic behavior; Behavioral abnormality; Myopathy; Abnormality of the face; Hypertelorism; Seizures; Disproportionate tall stature
Penetrance for gene: PDZD8 were set to Complete
Review for gene: PDZD8 was set to AMBER
Added comment: Al-Amri et al (2022 - PMID: 35227461) describe 4 affected individuals, belonging to 2 independent consanguineous families, harboring biallelic pLoF PDZD8 variants. The phenotype corresponded to a syndromic form of ID with autistic features. Animal models provide additional evidence for a role of the gene.

Details are provided concerning 3 affected sibs born to consanguineous parents (Fam-A) and a male proband born to first cousin parents (Fam-B) from different countries of the Arabian Peninsula.

Features included DD (4/4), ID (4/4 - moderate to severe), autistic features[*](4/4), other behavioral problems (3/4 - 2 families). Variable facial features were observed (4/4 - incl. hypertelorism 4/4, myopathic face, open mouth, low-set ears, ptosis). 3 sibs presented with myopathy[*](3/4 overall - 1 fam - see below), and marfanoid habitus was observed in 2 (2/4 - 1 fam). 2 sibs had epilepsy (2/4 - from 1 family). 1 individual had congenital heart defect. [* -also to consider for MOI]Autistic features were however observed in a parent and a htz sib. Mild myopathy/reduced facial expression was also observed in both parents. Contribution of another variant - also within the region of shared homozygosity - to the phenotype of myopathy was deemed to be possible within this family.

Previous genetic testing was not reported.

Homozygosity mapping in the 1st family identified 3 homozygous regions (2.57 - 28 Mb) shared by all affected sibs. Singleton WES revealed 2 candidate variants within these regions, a PDZD8 frameshift variant [NM_173791.5:c.2197_2200del;p.(S733*)] lying in the last exon and an ANKRD2 missense one (discussed above).

The proband in Fam-B was hmz for a nonsense variant in ex2 (of 5), namely c.894C>G/p.(Y298*) considered to be the most likely cause of his phenotype following singleton WES.

Sanger sequencing was used for validation and segregation studies confirming carrier status of the parents and compatible results in unaffected sibs (tested : 2 in Fam-A, 3 in Fam-B).

Both variants were absent from gnomAD (the first also from a pool of 50 control individuals of the same origin) where PDZD8 has a pLI of 1 (5 different pLoF variants, none hmz).

Expression was not studied for the 2 variants. As a result, it is not known whether they escape NMD (as could be expected for the variant in the last exon).

PDZD8 encodes an endoplasmatic reticulum (ER) transmembrane protein (TM). As the authors discuss, it has been previously shown that depletion of PDZD8 in neurons impairs endosomal homeostasis, decreases proximity of ER-mitochondria and decreases Ca+2 uptake mitochondria following synaptic transmission-induced release from the ER (sev. refs. provided).

The gene is highly expressed in the human brain (incl. subclasses of GABAergic / glutamatergic neurons in adult primary motor cortex). The authors analyzed RNA-seq data from the BrainSpan project, demonstrating stable expression in human brain from 8 wks after conception to adulthood. The gene is not expressed in blood.

The authors performed in vivo functional studies. Knockdown of the orthologous gene (CG10362) in Drosophila via RNA interference was shown to result in impairment of long-term memory. Mice homozygous for a variant introducing a premature termination codon exhibited restricted growth, brain structural alterations (incl. relative reduction of the CC, as in one subject), spontaneous stereotypies, decreased anxiety-like behavior with deficits in spatial memory and impaired hippocampal neurophysiology.

Currently, there is no associated phenotype in OMIM, Gene2Phenotype, SysID or PanelApp Australia.

Overall, this gene can be considered for inclusion in the ID panel probably with amber rating pending further reports.
Sources: Literature
Skeletal ciliopathies v1.17 IQCE Eleanor Williams Tag for-review was removed from gene: IQCE.
Skeletal ciliopathies v1.17 IQCE Eleanor Williams commented on gene: IQCE: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal ciliopathies v1.16 IQCE Eleanor Williams Source Expert Review Green was added to IQCE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Osteogenesis imperfecta v2.43 UNC45A Eleanor Williams Tag Q3_21_rating was removed from gene: UNC45A.
Tag Q3_21_NHS_review was removed from gene: UNC45A.
Osteogenesis imperfecta v2.43 MBTPS2 Eleanor Williams Tag Q3_21_rating was removed from gene: MBTPS2.
Tag Q3_21_NHS_review was removed from gene: MBTPS2.
Tag Q3_21_expert_review was removed from gene: MBTPS2.
Osteogenesis imperfecta v2.43 UNC45A Eleanor Williams commented on gene: UNC45A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Osteogenesis imperfecta v2.43 MBTPS2 Eleanor Williams commented on gene: MBTPS2: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. It has been agreed that this gene should remain amber at this time.
Osteogenesis imperfecta v2.42 UNC45A Eleanor Williams Source Expert Review Green was added to UNC45A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Osteogenesis imperfecta v2.41 KDELR2 Eleanor Williams Publications for gene: KDELR2 were set to 33053334
Osteogenesis imperfecta v2.40 MESD Eleanor Williams Publications for gene: MESD were set to 31564437
Osteogenesis imperfecta v2.39 MESD Eleanor Williams Tag for-review was removed from gene: MESD.
Osteogenesis imperfecta v2.39 KDELR2 Eleanor Williams Tag for-review was removed from gene: KDELR2.
Osteogenesis imperfecta v2.39 KDELR2 Eleanor Williams commented on gene: KDELR2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Osteogenesis imperfecta v2.39 MESD Eleanor Williams commented on gene: MESD: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Osteogenesis imperfecta v2.38 KDELR2 Eleanor Williams Source Expert Review Green was added to KDELR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Osteogenesis imperfecta v2.38 MESD Eleanor Williams Source Expert Review Green was added to MESD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb disorders v2.74 LRP4 Eleanor Williams commented on gene: LRP4: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Limb disorders v2.74 LMBR1 Eleanor Williams commented on gene: LMBR1: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Limb disorders v2.73 LRP4 Eleanor Williams Mode of inheritance for gene LRP4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb disorders v2.73 LMBR1 Eleanor Williams Mode of inheritance for gene LMBR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb disorders v2.72 LRP4 Eleanor Williams Phenotypes for gene: LRP4 were changed from Cenani-Lenz syndactyly syndrome, 212780; CLSS; Cenani syndactyly; Cenani-Lenz syndactyly; Syndactyly type 7; Polydactyly to Cenani-Lenz syndactyly syndrome, OMIM:212780; CLSS; Cenani syndactyly; Cenani-Lenz syndactyly; Syndactyly type 7; Polydactyly
Limb disorders v2.71 MECOM Eleanor Williams Tag Q3_21_rating was removed from gene: MECOM.
Tag Q3_21_NHS_review was removed from gene: MECOM.
Limb disorders v2.71 MECOM Eleanor Williams commented on gene: MECOM: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Limb disorders v2.70 MECOM Eleanor Williams Source Expert Review Green was added to MECOM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb disorders v2.69 SMO Eleanor Williams Tag for-review was removed from gene: SMO.
Limb disorders v2.69 PRKACB Eleanor Williams Tag for-review was removed from gene: PRKACB.
Limb disorders v2.69 KIAA0825 Eleanor Williams Tag for-review was removed from gene: KIAA0825.
Limb disorders v2.69 IQCE Eleanor Williams Tag for-review was removed from gene: IQCE.
Limb disorders v2.69 CEP55 Eleanor Williams Tag for-review was removed from gene: CEP55.
Limb disorders v2.69 KYNU Eleanor Williams Phenotypes for gene: KYNU were changed from Vertebral, cardiac, renal, and limb defects syndrome 2, 617661; hand hyperphalangism to Vertebral, cardiac, renal, and limb defects syndrome 2, OMIM:617661; hand hyperphalangism
Limb disorders v2.68 KYNU Eleanor Williams Tag for-review was removed from gene: KYNU.
Limb disorders v2.68 IFT27 Eleanor Williams Phenotypes for gene: IFT27 were changed from ?Bardet-Biedl syndrome 19, 615996; Polydactyly to Bardet-Biedl syndrome 19, OMIM:615996; Polydactyly
Limb disorders v2.67 IFT27 Eleanor Williams Tag for-review was removed from gene: IFT27.
Limb disorders v2.67 TRAF7 Eleanor Williams Tag for-review was removed from gene: TRAF7.
Limb disorders v2.67 SMO Eleanor Williams commented on gene: SMO: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Limb disorders v2.67 PRKACB Eleanor Williams commented on gene: PRKACB
Limb disorders v2.67 KIAA0825 Eleanor Williams commented on gene: KIAA0825: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Limb disorders v2.67 IQCE Eleanor Williams commented on gene: IQCE: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Limb disorders v2.67 CEP55 Eleanor Williams commented on gene: CEP55
Limb disorders v2.67 KYNU Eleanor Williams commented on gene: KYNU: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Limb disorders v2.67 IFT27 Eleanor Williams commented on gene: IFT27: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Limb disorders v2.67 TRAF7 Eleanor Williams commented on gene: TRAF7: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. The reviewers note that the penetrance of limb defects seems low and dev delay main feature - gene is already green on R29 (Intellectual disability) and R27 (Paediatric disorders) panels.
Limb disorders v2.66 SMO Eleanor Williams Source Expert list was added to SMO.
Mode of inheritance for gene SMO was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb disorders v2.66 PRKACB Eleanor Williams Source Expert Review Green was added to PRKACB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb disorders v2.66 KIAA0825 Eleanor Williams Source Expert Review Green was added to KIAA0825.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb disorders v2.66 IQCE Eleanor Williams Source Expert Review Green was added to IQCE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb disorders v2.66 CEP55 Eleanor Williams Source Expert Review Green was added to CEP55.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb disorders v2.66 KYNU Eleanor Williams Source Expert Review Green was added to KYNU.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb disorders v2.66 IFT27 Eleanor Williams Source Expert Review Green was added to IFT27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 B3GAT3 Eleanor Williams Tag Q3_21_rating was removed from gene: B3GAT3.
Tag Q3_21_NHS_review was removed from gene: B3GAT3.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 RNU12 Eleanor Williams Tag Q3_21_rating was removed from gene: RNU12.
Tag Q3_21_expert_review was removed from gene: RNU12.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 MASP1 Eleanor Williams Tag Q3_21_rating was removed from gene: MASP1.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 ZNF462 Eleanor Williams Tag Q3_21_rating was removed from gene: ZNF462.
Tag Q1_22_NHS_review was removed from gene: ZNF462.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 LTBP1 Eleanor Williams Tag Q3_21_rating was removed from gene: LTBP1.
Tag Q1_22_NHS_review was removed from gene: LTBP1.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 HNRNPK Eleanor Williams Tag Q3_21_rating was removed from gene: HNRNPK.
Tag Q1_22_NHS_review was removed from gene: HNRNPK.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 CHD7 Eleanor Williams Tag Q3_21_rating was removed from gene: CHD7.
Tag Q3_21_NHS_review was removed from gene: CHD7.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 ACTG1 Eleanor Williams Tag Q3_21_rating was removed from gene: ACTG1.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 ACTB Eleanor Williams Tag Q3_21_rating was removed from gene: ACTB.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 ZNF462 Eleanor Williams commented on gene: ZNF462: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 RNU12 Eleanor Williams commented on gene: RNU12: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. It has been agreed that this gene should remain amber at this time.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 MASP1 Eleanor Williams commented on gene: MASP1: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. It has been agreed that this gene should remain amber at this time.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 LTBP1 Eleanor Williams commented on gene: LTBP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 HNRNPK Eleanor Williams commented on gene: HNRNPK: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 CHD7 Eleanor Williams commented on gene: CHD7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 ACTG1 Eleanor Williams commented on gene: ACTG1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 ACTB Eleanor Williams commented on gene: ACTB: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.64 ZNF462 Eleanor Williams Source Expert Review Green was added to ZNF462.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.64 LTBP1 Eleanor Williams Source Expert Review Green was added to LTBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.64 HNRNPK Eleanor Williams Source Expert Review Green was added to HNRNPK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.64 CHD7 Eleanor Williams Source Expert Review Green was added to CHD7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.64 ACTG1 Eleanor Williams Source Expert Review Green was added to ACTG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.64 ACTB Eleanor Williams Source Expert Review Green was added to ACTB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.63 B3GAT3 Eleanor Williams Tag for-review was removed from gene: B3GAT3.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.63 SOX6 Eleanor Williams Tag for-review was removed from gene: SOX6.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.63 PTCH1 Eleanor Williams Tag for-review was removed from gene: PTCH1.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.63 SIX1 Eleanor Williams Tag for-review was removed from gene: SIX1.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.63 TRAF7 Eleanor Williams Tag for-review was removed from gene: TRAF7.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.63 SOX6 Eleanor Williams commented on gene: SOX6: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. No new evidence. For-review tag should have been removed after Helen Lord review in Jan 2021.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.63 PTCH1 Eleanor Williams commented on gene: PTCH1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.63 SIX1 Eleanor Williams commented on gene: SIX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.63 B3GAT3 Eleanor Williams commented on gene: B3GAT3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.63 TRAF7 Eleanor Williams commented on gene: TRAF7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.62 PTCH1 Eleanor Williams Source Expert Review Green was added to PTCH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.62 SIX1 Eleanor Williams Source Expert Review Green was added to SIX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.62 B3GAT3 Eleanor Williams Source Expert Review Green was added to B3GAT3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.62 TRAF7 Eleanor Williams Source Expert Review Green was added to TRAF7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Clefting v2.65 POLR1D Eleanor Williams commented on gene: POLR1D
Clefting v2.65 COL2A1 Eleanor Williams commented on gene: COL2A1
Clefting v2.65 COL11A2 Eleanor Williams commented on gene: COL11A2
Clefting v2.65 COL11A1 Eleanor Williams commented on gene: COL11A1
Clefting v2.64 POLR1D Eleanor Williams Mode of inheritance for gene POLR1D was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Clefting v2.64 COL2A1 Eleanor Williams Mode of inheritance for gene COL2A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Clefting v2.64 COL11A2 Eleanor Williams Mode of inheritance for gene COL11A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Clefting v2.64 COL11A1 Eleanor Williams Mode of inheritance for gene COL11A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.530 SEC61A1 Arina Puzriakova changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. It was agreed that SEC61A1 should remain amber at this time.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.530 SEC61A1 Arina Puzriakova Tag for-review was removed from gene: SEC61A1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.530 STAT5B Arina Puzriakova changed review comment from: Comment on mode of inheritance: MOI to be further discussed by the NHS Genomic Medicine Service team (added TBC tag). Reverted to back to biallelic so the MOI matches the previous signed-off version (v2.1); to: Comment on mode of inheritance: MOI to be further discussed by the NHS Genomic Medicine Service team (added TBC tag). Reverted back to biallelic so the MOI matches the previous signed-off version (v2.1)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.530 STAT5B Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: STAT5B.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.530 STAT5B Arina Puzriakova Added comment: Comment on mode of inheritance: MOI to be further discussed by the NHS Genomic Medicine Service team (added TBC tag). Reverted to back to biallelic so the MOI matches the previous signed-off version (v2.1)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.530 STAT5B Arina Puzriakova Mode of inheritance for gene: STAT5B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 MYO5B Arina Puzriakova Tag for-review was removed from gene: MYO5B.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RAC2 Arina Puzriakova changed review comment from: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been approved by the NHS Genomic Medicine Service.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 TCF3 Arina Puzriakova Tag for-review was removed from gene: TCF3.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 TCF3 Arina Puzriakova changed review comment from: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been approved by the NHS Genomic Medicine Service.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 PIK3CD Arina Puzriakova Tag for-review was removed from gene: PIK3CD.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 PIK3CD Arina Puzriakova changed review comment from: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been approved by the NHS Genomic Medicine Service.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RIPK1 Arina Puzriakova Tag for-review was removed from gene: RIPK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RIPK1 Arina Puzriakova changed review comment from: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been approved by the NHS Genomic Medicine Service.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 BLOC1S6 Arina Puzriakova Tag for-review was removed from gene: BLOC1S6.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 BLOC1S6 Arina Puzriakova changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that this gene should be green.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RNU7-1 Arina Puzriakova Tag for-review was removed from gene: RNU7-1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SOCS1 Arina Puzriakova Tag for-review was removed from gene: SOCS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SNORA31 Arina Puzriakova Tag for-review was removed from gene: SNORA31.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SLC7A7 Arina Puzriakova Tag for-review was removed from gene: SLC7A7.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 CIB1 Arina Puzriakova Tag for-review was removed from gene: CIB1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 EFL1 Arina Puzriakova Tag for-review was removed from gene: EFL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 DBR1 Arina Puzriakova Tag for-review was removed from gene: DBR1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 PAX1 Arina Puzriakova Tag for-review was removed from gene: PAX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 PIK3CG Arina Puzriakova Tag for-review was removed from gene: PIK3CG.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 CDC42 Arina Puzriakova Tag for-review was removed from gene: CDC42.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 IL6ST Arina Puzriakova Tag for-review was removed from gene: IL6ST.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 FCHO1 Arina Puzriakova Tag for-review was removed from gene: FCHO1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 IL6R Arina Puzriakova Tag for-review was removed from gene: IL6R.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 IL2RB Arina Puzriakova Tag for-review was removed from gene: IL2RB.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 HAVCR2 Arina Puzriakova Tag for-review was removed from gene: HAVCR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 NCKAP1L Arina Puzriakova Tag for-review was removed from gene: NCKAP1L.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 FNIP1 Arina Puzriakova Tag for-review was removed from gene: FNIP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 ZNF341 Arina Puzriakova Tag for-review was removed from gene: ZNF341.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 TRIM22 Arina Puzriakova Tag for-review was removed from gene: TRIM22.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 TOP2B Arina Puzriakova Tag for-review was removed from gene: TOP2B.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 TNFRSF9 Arina Puzriakova Tag for-review was removed from gene: TNFRSF9.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 NFE2L2 Arina Puzriakova Tag for-review was removed from gene: NFE2L2.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SRP54 Arina Puzriakova Tag for-review was removed from gene: SRP54.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SMARCD2 Arina Puzriakova Tag for-review was removed from gene: SMARCD2.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RECQL4 Arina Puzriakova Tag for-review was removed from gene: RECQL4.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SLC39A7 Arina Puzriakova Tag for-review was removed from gene: SLC39A7.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 C17orf62 Arina Puzriakova Tag for-review was removed from gene: C17orf62.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 LIG1 Arina Puzriakova Tag for-review was removed from gene: LIG1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 BCL10 Arina Puzriakova Tag for-review was removed from gene: BCL10.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 WDR1 Arina Puzriakova Tag for-review was removed from gene: WDR1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 USP18 Arina Puzriakova Tag for-review was removed from gene: USP18.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RAC2 Arina Puzriakova Tag watchlist was removed from gene: RAC2.
Tag for-review was removed from gene: RAC2.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 ADAM17 Arina Puzriakova Tag for-review was removed from gene: ADAM17.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 DNASE1L3 Arina Puzriakova Tag for-review was removed from gene: DNASE1L3.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 POLE Arina Puzriakova Tag for-review was removed from gene: POLE.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 OAS1 Arina Puzriakova Tag for-review was removed from gene: OAS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 CD247 Arina Puzriakova Tag for-review was removed from gene: CD247.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 NPC1 Arina Puzriakova Tag for-review was removed from gene: NPC1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RAC2 Arina Puzriakova commented on gene: RAC2: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SEC61A1 Arina Puzriakova commented on gene: SEC61A1
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 TCF3 Arina Puzriakova commented on gene: TCF3: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 PIK3CD Arina Puzriakova commented on gene: PIK3CD: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RIPK1 Arina Puzriakova commented on gene: RIPK1: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 BLOC1S6 Arina Puzriakova commented on gene: BLOC1S6
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RNU7-1 Arina Puzriakova commented on gene: RNU7-1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 MYO5B Arina Puzriakova commented on gene: MYO5B
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SOCS1 Arina Puzriakova commented on gene: SOCS1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SNORA31 Arina Puzriakova commented on gene: SNORA31: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SLC7A7 Arina Puzriakova commented on gene: SLC7A7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 CIB1 Arina Puzriakova commented on gene: CIB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 EFL1 Arina Puzriakova commented on gene: EFL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 DBR1 Arina Puzriakova commented on gene: DBR1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 PAX1 Arina Puzriakova commented on gene: PAX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 PIK3CG Arina Puzriakova commented on gene: PIK3CG: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 CDC42 Arina Puzriakova commented on gene: CDC42: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 IL6ST Arina Puzriakova commented on gene: IL6ST: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 FCHO1 Arina Puzriakova commented on gene: FCHO1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 IL6R Arina Puzriakova commented on gene: IL6R: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 IL2RB Arina Puzriakova commented on gene: IL2RB: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 HAVCR2 Arina Puzriakova commented on gene: HAVCR2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 NCKAP1L Arina Puzriakova commented on gene: NCKAP1L: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 FNIP1 Arina Puzriakova commented on gene: FNIP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 ZNF341 Arina Puzriakova commented on gene: ZNF341: The rating of this gene has been updated following NHS Genomic Medicine Service approval. Additional comments from NTGLH: 'Pseudogene affecting exon 15'
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 TRIM22 Arina Puzriakova commented on gene: TRIM22: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 TOP2B Arina Puzriakova commented on gene: TOP2B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 TNFRSF9 Arina Puzriakova commented on gene: TNFRSF9: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 NFE2L2 Arina Puzriakova commented on gene: NFE2L2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SRP54 Arina Puzriakova commented on gene: SRP54: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SMARCD2 Arina Puzriakova commented on gene: SMARCD2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RECQL4 Arina Puzriakova commented on gene: RECQL4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SLC39A7 Arina Puzriakova commented on gene: SLC39A7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 C17orf62 Arina Puzriakova commented on gene: C17orf62: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 LIG1 Arina Puzriakova commented on gene: LIG1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 BCL10 Arina Puzriakova commented on gene: BCL10: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 WDR1 Arina Puzriakova commented on gene: WDR1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 USP18 Arina Puzriakova commented on gene: USP18: The rating of this gene has been updated following NHS Genomic Medicine Service approval. Additional comments from NTGLH: '73.7% Pseudogene exons 3-10 >98% homology ex11 excluded from analysis'
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RAC2 Arina Puzriakova commented on gene: RAC2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 ADAM17 Arina Puzriakova commented on gene: ADAM17: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 DNASE1L3 Arina Puzriakova commented on gene: DNASE1L3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 POLE Arina Puzriakova commented on gene: POLE: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 OAS1 Arina Puzriakova commented on gene: OAS1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 CD247 Arina Puzriakova commented on gene: CD247: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 NPC1 Arina Puzriakova commented on gene: NPC1
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 BLOC1S6 Arina Puzriakova Source Expert Review Green was added to BLOC1S6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 RNU7-1 Arina Puzriakova Source Expert Review Green was added to RNU7-1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 SOCS1 Arina Puzriakova Source Expert Review Green was added to SOCS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 SNORA31 Arina Puzriakova Source Expert Review Green was added to SNORA31.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 SLC7A7 Arina Puzriakova Source Expert Review Green was added to SLC7A7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 CIB1 Arina Puzriakova Source Expert Review Green was added to CIB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 EFL1 Arina Puzriakova Source Expert Review Green was added to EFL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 DBR1 Arina Puzriakova Source Expert Review Green was added to DBR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 PAX1 Arina Puzriakova Source Expert Review Green was added to PAX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 PIK3CG Arina Puzriakova Source Expert Review Green was added to PIK3CG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 CDC42 Arina Puzriakova Source Expert Review Green was added to CDC42.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 IL6ST Arina Puzriakova Source Expert Review Green was added to IL6ST.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 FCHO1 Arina Puzriakova Source Expert Review Green was added to FCHO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 IL6R Arina Puzriakova Source Expert Review Green was added to IL6R.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 IL2RB Arina Puzriakova Source Expert Review Green was added to IL2RB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 HAVCR2 Arina Puzriakova Source Expert Review Green was added to HAVCR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 NCKAP1L Arina Puzriakova Source Expert Review Green was added to NCKAP1L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 FNIP1 Arina Puzriakova Source Expert Review Green was added to FNIP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 ZNF341 Arina Puzriakova Source Expert Review Green was added to ZNF341.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 TRIM22 Arina Puzriakova Source Expert Review Green was added to TRIM22.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 TOP2B Arina Puzriakova Source Expert Review Green was added to TOP2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 TNFRSF9 Arina Puzriakova Source Expert Review Green was added to TNFRSF9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 NFE2L2 Arina Puzriakova Source Expert Review Green was added to NFE2L2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 SRP54 Arina Puzriakova Source Expert Review Green was added to SRP54.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 SMARCD2 Arina Puzriakova Source Expert Review Green was added to SMARCD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 RECQL4 Arina Puzriakova Source Expert Review Green was added to RECQL4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 SLC39A7 Arina Puzriakova Source Expert Review Green was added to SLC39A7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 C17orf62 Arina Puzriakova Source Expert Review Green was added to C17orf62.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 LIG1 Arina Puzriakova Source Expert Review Green was added to LIG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 BCL10 Arina Puzriakova Source Expert Review Green was added to BCL10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 WDR1 Arina Puzriakova Source Expert Review Green was added to WDR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 USP18 Arina Puzriakova Source Expert Review Green was added to USP18.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 RAC2 Arina Puzriakova Source Expert Review Green was added to RAC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 ADAM17 Arina Puzriakova Source Expert Review Green was added to ADAM17.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 DNASE1L3 Arina Puzriakova Source Expert Review Green was added to DNASE1L3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 POLE Arina Puzriakova Source Expert Review Green was added to POLE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 OAS1 Arina Puzriakova Source Expert Review Green was added to OAS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 CD247 Arina Puzriakova Source Expert Review Green was added to CD247.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 NPC1 Arina Puzriakova Source Expert Review Green was added to NPC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare anaemia v1.38 NHLRC2 Arina Puzriakova Tag for-review was removed from gene: NHLRC2.
Rare anaemia v1.38 RPL26 Arina Puzriakova Tag for-review was removed from gene: RPL26.
Rare anaemia v1.38 COX4I2 Arina Puzriakova changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that COX4I2 should be red.
Rare anaemia v1.38 COX4I2 Arina Puzriakova Tag for-review was removed from gene: COX4I2.
Rare anaemia v1.38 VPS4A Arina Puzriakova Tag for-review was removed from gene: VPS4A.
Rare anaemia v1.38 NHLRC2 Arina Puzriakova commented on gene: NHLRC2
Rare anaemia v1.38 RPL26 Arina Puzriakova commented on gene: RPL26
Rare anaemia v1.38 COX4I2 Arina Puzriakova commented on gene: COX4I2
Rare anaemia v1.38 VPS4A Arina Puzriakova commented on gene: VPS4A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Rare anaemia v1.37 RPL26 Arina Puzriakova Source Expert Review Red was added to RPL26.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Rare anaemia v1.37 COX4I2 Arina Puzriakova Source Expert Review Red was added to COX4I2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Rare anaemia v1.37 VPS4A Arina Puzriakova Source Expert Review Green was added to VPS4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v1.57 RPL31 Arina Puzriakova Tag for-review was removed from gene: RPL31.
Cytopenia - NOT Fanconi anaemia v1.57 RPL31 Arina Puzriakova changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that RPL31 should be amber.
Cytopenia - NOT Fanconi anaemia v1.57 RPL9 Arina Puzriakova Tag for-review was removed from gene: RPL9.
Cytopenia - NOT Fanconi anaemia v1.57 KIF23 Arina Puzriakova Tag for-review was removed from gene: KIF23.
Cytopenia - NOT Fanconi anaemia v1.57 RPL26 Arina Puzriakova Tag for-review was removed from gene: RPL26.
Cytopenia - NOT Fanconi anaemia v1.57 KIF23 Arina Puzriakova changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that KIF23 should be amber.
Cytopenia - NOT Fanconi anaemia v1.57 RPL9 Arina Puzriakova changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that RPL9 should be amber.
Cytopenia - NOT Fanconi anaemia v1.57 STN1 Arina Puzriakova Tag for-review was removed from gene: STN1.
Cytopenia - NOT Fanconi anaemia v1.57 SRP54 Arina Puzriakova Tag for-review was removed from gene: SRP54.
Cytopenia - NOT Fanconi anaemia v1.57 AK2 Arina Puzriakova Tag for-review was removed from gene: AK2.
Cytopenia - NOT Fanconi anaemia v1.57 DDX41 Arina Puzriakova Tag for-review was removed from gene: DDX41.
Cytopenia - NOT Fanconi anaemia v1.57 NHP2 Arina Puzriakova Tag for-review was removed from gene: NHP2.
Cytopenia - NOT Fanconi anaemia v1.57 MYSM1 Arina Puzriakova Tag for-review was removed from gene: MYSM1.
Cytopenia - NOT Fanconi anaemia v1.57 EFL1 Arina Puzriakova Tag for-review was removed from gene: EFL1.
Cytopenia - NOT Fanconi anaemia v1.57 RPL31 Arina Puzriakova commented on gene: RPL31: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cytopenia - NOT Fanconi anaemia v1.57 RPL26 Arina Puzriakova commented on gene: RPL26: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cytopenia - NOT Fanconi anaemia v1.57 KIF23 Arina Puzriakova commented on gene: KIF23: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cytopenia - NOT Fanconi anaemia v1.57 RPL9 Arina Puzriakova commented on gene: RPL9: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cytopenia - NOT Fanconi anaemia v1.57 STN1 Arina Puzriakova commented on gene: STN1
Cytopenia - NOT Fanconi anaemia v1.57 SRP54 Arina Puzriakova commented on gene: SRP54: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cytopenia - NOT Fanconi anaemia v1.57 AK2 Arina Puzriakova commented on gene: AK2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cytopenia - NOT Fanconi anaemia v1.57 DDX41 Arina Puzriakova commented on gene: DDX41: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cytopenia - NOT Fanconi anaemia v1.57 NHP2 Arina Puzriakova commented on gene: NHP2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cytopenia - NOT Fanconi anaemia v1.57 MYSM1 Arina Puzriakova commented on gene: MYSM1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cytopenia - NOT Fanconi anaemia v1.57 EFL1 Arina Puzriakova commented on gene: EFL1
Cytopenia - NOT Fanconi anaemia v1.56 RPL31 Arina Puzriakova Source Expert Review Amber was added to RPL31.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v1.56 RPL26 Arina Puzriakova Source Expert Review Red was added to RPL26.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cytopenia - NOT Fanconi anaemia v1.56 KIF23 Arina Puzriakova Source Expert Review Amber was added to KIF23.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v1.56 RPL9 Arina Puzriakova Source Expert Review Amber was added to RPL9.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v1.56 STN1 Arina Puzriakova Source Expert Review Green was added to STN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v1.56 SRP54 Arina Puzriakova Source Expert Review Green was added to SRP54.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v1.56 AK2 Arina Puzriakova Source Expert Review Green was added to AK2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v1.56 DDX41 Arina Puzriakova Source Expert Review Green was added to DDX41.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v1.56 NHP2 Arina Puzriakova Source Expert Review Green was added to NHP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v1.56 MYSM1 Arina Puzriakova Source Expert Review Green was added to MYSM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v1.56 EFL1 Arina Puzriakova Source Expert Review Green was added to EFL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bleeding and platelet disorders v1.33 FLNA Arina Puzriakova Tag for-review was removed from gene: FLNA.
Bleeding and platelet disorders v1.33 CHST14 Arina Puzriakova Tag for-review was removed from gene: CHST14.
Bleeding and platelet disorders v1.33 NBEA Arina Puzriakova Tag for-review was removed from gene: NBEA.
Bleeding and platelet disorders v1.33 HOXA11 Arina Puzriakova Tag for-review was removed from gene: HOXA11.
Bleeding and platelet disorders v1.33 PRKACG Arina Puzriakova Tag for-review was removed from gene: PRKACG.
Bleeding and platelet disorders v1.33 PRKACG Arina Puzriakova changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It was agreed that PRKACG should be Red.
Bleeding and platelet disorders v1.33 IKZF5 Arina Puzriakova Tag for-review was removed from gene: IKZF5.
Bleeding and platelet disorders v1.33 PTGS1 Arina Puzriakova Tag for-review was removed from gene: PTGS1.
Bleeding and platelet disorders v1.33 FLNA Arina Puzriakova commented on gene: FLNA: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that there is enough evidence to promote FLNA to green.
Bleeding and platelet disorders v1.33 CHST14 Arina Puzriakova commented on gene: CHST14: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that there is enough evidence to promote CHST14 to green.
Bleeding and platelet disorders v1.33 NBEA Arina Puzriakova commented on gene: NBEA: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bleeding and platelet disorders v1.33 HOXA11 Arina Puzriakova commented on gene: HOXA11: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bleeding and platelet disorders v1.33 PRKACG Arina Puzriakova commented on gene: PRKACG: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bleeding and platelet disorders v1.33 IKZF5 Arina Puzriakova commented on gene: IKZF5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bleeding and platelet disorders v1.33 PTGS1 Arina Puzriakova commented on gene: PTGS1
Bleeding and platelet disorders v1.32 FLNA Arina Puzriakova Source Expert Review Green was added to FLNA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bleeding and platelet disorders v1.32 CHST14 Arina Puzriakova Source Expert Review Green was added to CHST14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bleeding and platelet disorders v1.32 NBEA Arina Puzriakova Source Expert Review Red was added to NBEA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Bleeding and platelet disorders v1.32 HOXA11 Arina Puzriakova Source Expert Review Amber was added to HOXA11.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Bleeding and platelet disorders v1.32 PRKACG Arina Puzriakova Source Expert Review Red was added to PRKACG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Bleeding and platelet disorders v1.32 IKZF5 Arina Puzriakova Source Expert Review Green was added to IKZF5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bleeding and platelet disorders v1.32 PTGS1 Arina Puzriakova Source Expert Review Green was added to PTGS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.35 SMN1 Sarah Leigh Tag for-review was removed from gene: SMN1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.35 TOR1AIP1 Sarah Leigh changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.35 TOR1AIP1 Sarah Leigh Tag for-review was removed from gene: TOR1AIP1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.35 SMN1 Sarah Leigh changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.35 SMN1 Sarah Leigh commented on gene: SMN1: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.35 TOR1AIP1 Sarah Leigh commented on gene: TOR1AIP1
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.34 SMN1 Sarah Leigh Source Expert Review Red was added to SMN1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.34 TOR1AIP1 Sarah Leigh Source Expert Review Green was added to TOR1AIP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia, adult onset v1.90 PCYT2 Sarah Leigh Tag for-review was removed from gene: PCYT2.
Hereditary spastic paraplegia, adult onset v1.90 PCYT2 Sarah Leigh commented on gene: PCYT2
Hereditary spastic paraplegia, adult onset v1.89 PCYT2 Sarah Leigh Source Expert Review Green was added to PCYT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v1.83 SLC12A6 Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: SLC12A6.
Hereditary neuropathy or pain disorder v1.83 SPTBN4 Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: SPTBN4.
Hereditary neuropathy or pain disorder v1.83 NEMF Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: NEMF.
Hereditary neuropathy or pain disorder v1.83 SORD Sarah Leigh Tag for-review was removed from gene: SORD.
Tag Q3_21_NHS_review was removed from gene: SORD.
Hereditary neuropathy or pain disorder v1.83 PNKP Sarah Leigh Tag for-review was removed from gene: PNKP.
Hereditary neuropathy or pain disorder v1.83 SORD Sarah Leigh commented on gene: SORD: NHS Genomic Medicine Service consideration - coverage and variant calling will be compromised by pseudogene issue.
Hereditary neuropathy or pain disorder v1.83 PNKP Sarah Leigh commented on gene: PNKP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary neuropathy or pain disorder v1.83 SORD Sarah Leigh commented on gene: SORD
Hereditary neuropathy or pain disorder v1.82 PNKP Sarah Leigh Source Expert Review Green was added to PNKP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v1.82 SORD Sarah Leigh Source Expert Review Green was added to SORD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.491 ADAM22 Sarah Leigh Tag for-review was removed from gene: ADAM22.
Early onset or syndromic epilepsy v2.491 EEF1A2 Sarah Leigh Tag for-review was removed from gene: EEF1A2.
Early onset or syndromic epilepsy v2.491 CEP85L Sarah Leigh Tag for-review was removed from gene: CEP85L.
Early onset or syndromic epilepsy v2.491 SLC5A6 Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: SLC5A6.
Early onset or syndromic epilepsy v2.491 SCN8A Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: SCN8A.
Early onset or syndromic epilepsy v2.491 CPA6 Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: CPA6.
Early onset or syndromic epilepsy v2.491 APC2 Sarah Leigh Tag for-review was removed from gene: APC2.
Early onset or syndromic epilepsy v2.491 ASNS Sarah Leigh Tag for-review was removed from gene: ASNS.
Early onset or syndromic epilepsy v2.491 ANKRD11 Sarah Leigh Tag for-review was removed from gene: ANKRD11.
Early onset or syndromic epilepsy v2.491 CACNB4 Sarah Leigh Tag for-review was removed from gene: CACNB4.
Early onset or syndromic epilepsy v2.491 CDK19 Sarah Leigh Tag for-review was removed from gene: CDK19.
Early onset or syndromic epilepsy v2.491 GAD1 Sarah Leigh Tag for-review was removed from gene: GAD1.
Early onset or syndromic epilepsy v2.491 PIGK Sarah Leigh Tag for-review was removed from gene: PIGK.
Early onset or syndromic epilepsy v2.491 RALGAPA1 Sarah Leigh Tag for-review was removed from gene: RALGAPA1.
Early onset or syndromic epilepsy v2.491 PPIL1 Sarah Leigh Tag for-review was removed from gene: PPIL1.
Early onset or syndromic epilepsy v2.491 UBR7 Sarah Leigh Tag for-review was removed from gene: UBR7.
Early onset or syndromic epilepsy v2.491 FGF13 Sarah Leigh Tag for-review was removed from gene: FGF13.
Early onset or syndromic epilepsy v2.491 TIMM50 Sarah Leigh Tag for-review was removed from gene: TIMM50.
Early onset or syndromic epilepsy v2.491 TRPM3 Sarah Leigh Tag for-review was removed from gene: TRPM3.
Early onset or syndromic epilepsy v2.491 WDR45B Sarah Leigh Tag for-review was removed from gene: WDR45B.
Early onset or syndromic epilepsy v2.491 SETD5 Sarah Leigh Tag for-review was removed from gene: SETD5.
Early onset or syndromic epilepsy v2.491 SETD1B Sarah Leigh Tag for-review was removed from gene: SETD1B.
Early onset or syndromic epilepsy v2.491 RNF13 Sarah Leigh Tag for-review was removed from gene: RNF13.
Early onset or syndromic epilepsy v2.491 PIGP Sarah Leigh Tag for-review was removed from gene: PIGP.
Early onset or syndromic epilepsy v2.491 KAT5 Sarah Leigh Tag for-review was removed from gene: KAT5.
Early onset or syndromic epilepsy v2.491 PTEN Sarah Leigh Tag for-review was removed from gene: PTEN.
Early onset or syndromic epilepsy v2.491 ADARB1 Sarah Leigh Tag for-review was removed from gene: ADARB1.
Early onset or syndromic epilepsy v2.491 CARS2 Sarah Leigh Tag for-review was removed from gene: CARS2.
Early onset or syndromic epilepsy v2.491 HERC2 Sarah Leigh Tag for-review was removed from gene: HERC2.
Early onset or syndromic epilepsy v2.491 MADD Sarah Leigh Tag for-review was removed from gene: MADD.
Early onset or syndromic epilepsy v2.491 MTHFS Sarah Leigh Tag for-review was removed from gene: MTHFS.
Early onset or syndromic epilepsy v2.491 NR4A2 Sarah Leigh Tag for-review was removed from gene: NR4A2.
Early onset or syndromic epilepsy v2.491 NRROS Sarah Leigh Tag for-review was removed from gene: NRROS.
Early onset or syndromic epilepsy v2.491 OXR1 Sarah Leigh Tag for-review was removed from gene: OXR1.
Early onset or syndromic epilepsy v2.491 SCAF4 Sarah Leigh Tag for-review was removed from gene: SCAF4.
Early onset or syndromic epilepsy v2.491 TUBGCP2 Sarah Leigh Tag for-review was removed from gene: TUBGCP2.
Early onset or syndromic epilepsy v2.491 UGDH Sarah Leigh Tag for-review was removed from gene: UGDH.
Early onset or syndromic epilepsy v2.491 USP18 Sarah Leigh Tag for-review was removed from gene: USP18.
Early onset or syndromic epilepsy v2.491 TMX2 Sarah Leigh Tag for-review was removed from gene: TMX2.
Early onset or syndromic epilepsy v2.491 TRAPPC4 Sarah Leigh Tag for-review was removed from gene: TRAPPC4.
Early onset or syndromic epilepsy v2.491 UGP2 Sarah Leigh Tag for-review was removed from gene: UGP2.
Early onset or syndromic epilepsy v2.491 PCYT2 Sarah Leigh Tag for-review was removed from gene: PCYT2.
Early onset or syndromic epilepsy v2.491 SETD1A Sarah Leigh Tag for-review was removed from gene: SETD1A.
Early onset or syndromic epilepsy v2.491 SERPINI1 Sarah Leigh Tag for-review was removed from gene: SERPINI1.
Early onset or syndromic epilepsy v2.491 RNF113A Sarah Leigh Tag for-review was removed from gene: RNF113A.
Early onset or syndromic epilepsy v2.491 RARS Sarah Leigh Tag for-review was removed from gene: RARS.
Early onset or syndromic epilepsy v2.491 PUM1 Sarah Leigh Tag for-review was removed from gene: PUM1.
Early onset or syndromic epilepsy v2.491 PNPT1 Sarah Leigh Tag for-review was removed from gene: PNPT1.
Early onset or syndromic epilepsy v2.491 LARS Sarah Leigh Tag for-review was removed from gene: LARS.
Early onset or syndromic epilepsy v2.491 NARS Sarah Leigh Tag for-review was removed from gene: NARS.
Early onset or syndromic epilepsy v2.491 TFE3 Sarah Leigh Tag for-review was removed from gene: TFE3.
Early onset or syndromic epilepsy v2.491 H3F3A Sarah Leigh Tag for-review was removed from gene: H3F3A.
Early onset or syndromic epilepsy v2.491 H3F3B Sarah Leigh Tag for-review was removed from gene: H3F3B.
Early onset or syndromic epilepsy v2.491 GRN Sarah Leigh Tag for-review was removed from gene: GRN.
Early onset or syndromic epilepsy v2.491 TBC1D2B Sarah Leigh Tag for-review was removed from gene: TBC1D2B.
Early onset or syndromic epilepsy v2.491 ZNF335 Sarah Leigh Tag for-review was removed from gene: ZNF335.
Early onset or syndromic epilepsy v2.491 TRAPPC12 Sarah Leigh Tag for-review was removed from gene: TRAPPC12.
Early onset or syndromic epilepsy v2.491 DDC Sarah Leigh Tag for-review was removed from gene: DDC.
Early onset or syndromic epilepsy v2.491 ALG14 Sarah Leigh Tag for-review was removed from gene: ALG14.
Early onset or syndromic epilepsy v2.491 GALNT2 Sarah Leigh Tag for-review was removed from gene: GALNT2.
Early onset or syndromic epilepsy v2.491 SEMA6B Sarah Leigh Tag for-review was removed from gene: SEMA6B.
Early onset or syndromic epilepsy v2.491 ALKBH8 Sarah Leigh Tag for-review was removed from gene: ALKBH8.
Early onset or syndromic epilepsy v2.491 LMBRD2 Sarah Leigh Tag for-review was removed from gene: LMBRD2.
Early onset or syndromic epilepsy v2.491 KAT8 Sarah Leigh Tag for-review was removed from gene: KAT8.
Early onset or syndromic epilepsy v2.491 DMXL2 Sarah Leigh Tag for-review was removed from gene: DMXL2.
Early onset or syndromic epilepsy v2.491 DLL1 Sarah Leigh changed review comment from: The rating of this gene has been updated followingNHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 DLL1 Sarah Leigh Tag for-review was removed from gene: DLL1.
Early onset or syndromic epilepsy v2.491 ADAM22 Sarah Leigh commented on gene: ADAM22: NHSGenomic Medicine Service consideration - the amber rating is appropriate for this gene.
Early onset or syndromic epilepsy v2.491 EEF1A2 Sarah Leigh commented on gene: EEF1A2: NHS Genomic Medicine Service consideration - the phenotype is appropriate for this panel
Early onset or syndromic epilepsy v2.491 DLL1 Sarah Leigh commented on gene: DLL1
Early onset or syndromic epilepsy v2.491 SCAMP5 Sarah Leigh commented on gene: SCAMP5: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 DMXL2 Sarah Leigh commented on gene: DMXL2: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 KAT8 Sarah Leigh commented on gene: KAT8: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 TET3 Sarah Leigh commented on gene: TET3: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 LMBRD2 Sarah Leigh commented on gene: LMBRD2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 ALKBH8 Sarah Leigh commented on gene: ALKBH8
Early onset or syndromic epilepsy v2.491 SEMA6B Sarah Leigh commented on gene: SEMA6B
Early onset or syndromic epilepsy v2.491 GALNT2 Sarah Leigh commented on gene: GALNT2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 ALG14 Sarah Leigh commented on gene: ALG14: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 ADAM22 Sarah Leigh commented on gene: ADAM22: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Early onset or syndromic epilepsy v2.491 DDC Sarah Leigh commented on gene: DDC: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 EEF1A2 Sarah Leigh commented on gene: EEF1A2: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Early onset or syndromic epilepsy v2.491 TRAPPC12 Sarah Leigh commented on gene: TRAPPC12
Early onset or syndromic epilepsy v2.491 ZNF335 Sarah Leigh commented on gene: ZNF335
Early onset or syndromic epilepsy v2.491 TBC1D2B Sarah Leigh commented on gene: TBC1D2B
Early onset or syndromic epilepsy v2.491 GRN Sarah Leigh commented on gene: GRN
Early onset or syndromic epilepsy v2.491 DMXL2 Sarah Leigh commented on gene: DMXL2
Early onset or syndromic epilepsy v2.491 H3F3B Sarah Leigh commented on gene: H3F3B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 H3F3A Sarah Leigh commented on gene: H3F3A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 TFE3 Sarah Leigh commented on gene: TFE3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 NARS Sarah Leigh commented on gene: NARS
Early onset or syndromic epilepsy v2.491 LARS Sarah Leigh commented on gene: LARS
Early onset or syndromic epilepsy v2.491 PNPT1 Sarah Leigh commented on gene: PNPT1
Early onset or syndromic epilepsy v2.491 PUM1 Sarah Leigh commented on gene: PUM1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 RARS Sarah Leigh commented on gene: RARS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 RNF113A Sarah Leigh commented on gene: RNF113A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 SERPINI1 Sarah Leigh commented on gene: SERPINI1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 SETD1A Sarah Leigh commented on gene: SETD1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 PCYT2 Sarah Leigh commented on gene: PCYT2
Early onset or syndromic epilepsy v2.491 UGP2 Sarah Leigh commented on gene: UGP2
Early onset or syndromic epilepsy v2.491 TRAPPC4 Sarah Leigh commented on gene: TRAPPC4
Early onset or syndromic epilepsy v2.491 KAT8 Sarah Leigh commented on gene: KAT8
Early onset or syndromic epilepsy v2.491 TMX2 Sarah Leigh commented on gene: TMX2
Early onset or syndromic epilepsy v2.491 USP18 Sarah Leigh commented on gene: USP18
Early onset or syndromic epilepsy v2.491 UGDH Sarah Leigh commented on gene: UGDH
Early onset or syndromic epilepsy v2.491 TUBGCP2 Sarah Leigh commented on gene: TUBGCP2
Early onset or syndromic epilepsy v2.491 SCAF4 Sarah Leigh commented on gene: SCAF4
Early onset or syndromic epilepsy v2.491 OXR1 Sarah Leigh commented on gene: OXR1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 NRROS Sarah Leigh commented on gene: NRROS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 NR4A2 Sarah Leigh commented on gene: NR4A2
Early onset or syndromic epilepsy v2.491 MTHFS Sarah Leigh commented on gene: MTHFS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 MADD Sarah Leigh commented on gene: MADD
Early onset or syndromic epilepsy v2.491 HERC2 Sarah Leigh commented on gene: HERC2
Early onset or syndromic epilepsy v2.491 CARS2 Sarah Leigh commented on gene: CARS2
Early onset or syndromic epilepsy v2.491 ADARB1 Sarah Leigh commented on gene: ADARB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 PTEN Sarah Leigh commented on gene: PTEN: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 KAT5 Sarah Leigh commented on gene: KAT5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 PIGP Sarah Leigh commented on gene: PIGP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 RNF13 Sarah Leigh commented on gene: RNF13: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 SETD1B Sarah Leigh commented on gene: SETD1B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 SETD5 Sarah Leigh commented on gene: SETD5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 WDR45B Sarah Leigh commented on gene: WDR45B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 TRPM3 Sarah Leigh commented on gene: TRPM3
Early onset or syndromic epilepsy v2.491 TIMM50 Sarah Leigh commented on gene: TIMM50: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 FGF13 Sarah Leigh commented on gene: FGF13
Early onset or syndromic epilepsy v2.491 UBR7 Sarah Leigh commented on gene: UBR7
Early onset or syndromic epilepsy v2.491 PPIL1 Sarah Leigh commented on gene: PPIL1
Early onset or syndromic epilepsy v2.491 RALGAPA1 Sarah Leigh commented on gene: RALGAPA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 PIGK Sarah Leigh commented on gene: PIGK: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 GAD1 Sarah Leigh commented on gene: GAD1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 CEP85L Sarah Leigh commented on gene: CEP85L
Early onset or syndromic epilepsy v2.491 CDK19 Sarah Leigh commented on gene: CDK19: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 CACNB4 Sarah Leigh commented on gene: CACNB4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 ANKRD11 Sarah Leigh commented on gene: ANKRD11: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 ASNS Sarah Leigh commented on gene: ASNS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 APC2 Sarah Leigh commented on gene: APC2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.490 DLL1 Sarah Leigh Source Expert Review Green was added to DLL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 SCAMP5 Sarah Leigh Source NHS GMS was added to SCAMP5.
Early onset or syndromic epilepsy v2.490 DMXL2 Sarah Leigh Source NHS GMS was added to DMXL2.
Early onset or syndromic epilepsy v2.490 KAT8 Sarah Leigh Source NHS GMS was added to KAT8.
Early onset or syndromic epilepsy v2.490 TET3 Sarah Leigh Source NHS GMS was added to TET3.
Early onset or syndromic epilepsy v2.490 LMBRD2 Sarah Leigh Source Expert Review Green was added to LMBRD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 ALKBH8 Sarah Leigh Source Expert Review Green was added to ALKBH8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 SEMA6B Sarah Leigh Source Expert Review Green was added to SEMA6B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 GALNT2 Sarah Leigh Source Expert Review Green was added to GALNT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 ALG14 Sarah Leigh Source Expert Review Green was added to ALG14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 DDC Sarah Leigh Source Expert Review Green was added to DDC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 TRAPPC12 Sarah Leigh Source Expert Review Green was added to TRAPPC12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 ZNF335 Sarah Leigh Source Expert Review Green was added to ZNF335.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 TBC1D2B Sarah Leigh Source Expert Review Green was added to TBC1D2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 GRN Sarah Leigh Source Expert Review Green was added to GRN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 DMXL2 Sarah Leigh Source Expert Review Green was added to DMXL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 H3F3B Sarah Leigh Source Expert Review Green was added to H3F3B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 H3F3A Sarah Leigh Source Expert Review Green was added to H3F3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 TFE3 Sarah Leigh Source Expert Review Green was added to TFE3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 NARS Sarah Leigh Source Expert Review Green was added to NARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 LARS Sarah Leigh Source Expert Review Green was added to LARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 PNPT1 Sarah Leigh Source Expert Review Green was added to PNPT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 PUM1 Sarah Leigh Source Expert Review Green was added to PUM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 RARS Sarah Leigh Source Expert Review Green was added to RARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 RNF113A Sarah Leigh Source Expert Review Green was added to RNF113A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 SERPINI1 Sarah Leigh Source Expert Review Green was added to SERPINI1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 SETD1A Sarah Leigh Source Expert Review Green was added to SETD1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 PCYT2 Sarah Leigh Source Expert Review Green was added to PCYT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 UGP2 Sarah Leigh Source Expert Review Green was added to UGP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 TRAPPC4 Sarah Leigh Source Expert Review Green was added to TRAPPC4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 KAT8 Sarah Leigh Source Expert Review Green was added to KAT8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 TMX2 Sarah Leigh Source Expert Review Green was added to TMX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 USP18 Sarah Leigh Source Expert Review Green was added to USP18.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 UGDH Sarah Leigh Source Expert Review Green was added to UGDH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 TUBGCP2 Sarah Leigh Source Expert Review Green was added to TUBGCP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 SCAF4 Sarah Leigh Source Expert Review Green was added to SCAF4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 OXR1 Sarah Leigh Source Expert Review Green was added to OXR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 NRROS Sarah Leigh Source Expert Review Green was added to NRROS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 NR4A2 Sarah Leigh Source Expert Review Green was added to NR4A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 MTHFS Sarah Leigh Source Expert Review Green was added to MTHFS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 MADD Sarah Leigh Source Expert Review Green was added to MADD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 HERC2 Sarah Leigh Source Expert Review Green was added to HERC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 CARS2 Sarah Leigh Source Expert Review Green was added to CARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 ADARB1 Sarah Leigh Source Expert Review Green was added to ADARB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 PTEN Sarah Leigh Source Expert Review Green was added to PTEN.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 KAT5 Sarah Leigh Source Expert Review Green was added to KAT5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 PIGP Sarah Leigh Source Expert Review Green was added to PIGP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 RNF13 Sarah Leigh Source Expert Review Green was added to RNF13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 SETD1B Sarah Leigh Source Expert Review Green was added to SETD1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 SETD5 Sarah Leigh Source Expert Review Green was added to SETD5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 WDR45B Sarah Leigh Source Expert Review Green was added to WDR45B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 TRPM3 Sarah Leigh Source Expert Review Green was added to TRPM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 TIMM50 Sarah Leigh Source Expert Review Green was added to TIMM50.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 FGF13 Sarah Leigh Source Expert Review Green was added to FGF13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 UBR7 Sarah Leigh Source Expert Review Green was added to UBR7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 PPIL1 Sarah Leigh Source Expert Review Green was added to PPIL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 RALGAPA1 Sarah Leigh Source Expert Review Green was added to RALGAPA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 PIGK Sarah Leigh Source Expert Review Green was added to PIGK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 GAD1 Sarah Leigh Source Expert Review Green was added to GAD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 CEP85L Sarah Leigh Source Expert Review Green was added to CEP85L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 CDK19 Sarah Leigh Source Expert Review Green was added to CDK19.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 CACNB4 Sarah Leigh Source Expert Review Green was added to CACNB4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 ANKRD11 Sarah Leigh Source Expert Review Green was added to ANKRD11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 ASNS Sarah Leigh Source Expert Review Green was added to ASNS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 APC2 Sarah Leigh Source Expert Review Green was added to APC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v1.212 HPRT1 Sarah Leigh Tag Q4_21_expert_review was removed from gene: HPRT1.
Tag Q4_21_rating was removed from gene: HPRT1.
Dystonia, chorea or related movement disorder, childhood onset v1.212 DHDDS Sarah Leigh Tag Q4_21_rating was removed from gene: DHDDS.
Dystonia, chorea or related movement disorder, childhood onset v1.212 ALDH18A1 Sarah Leigh Tag Q2_21_phenotype was removed from gene: ALDH18A1.
Tag Q2_21_expert_review was removed from gene: ALDH18A1.
Dystonia, chorea or related movement disorder, childhood onset v1.212 C9orf72 Sarah Leigh Tag Q4_21_MOI was removed from gene: C9orf72.
Tag Q4_21_rating was removed from gene: C9orf72.
Tag Q4_21_NHS_review was removed from gene: C9orf72.
Dystonia, chorea or related movement disorder, childhood onset v1.212 CAMK4 Sarah Leigh Tag Q3_21_rating was removed from gene: CAMK4.
Dystonia, chorea or related movement disorder, childhood onset v1.212 CLPB Sarah Leigh Tag Q4_21_MOI was removed from gene: CLPB.
Dystonia, chorea or related movement disorder, childhood onset v1.212 CSTB Sarah Leigh Tag Q2_21_phenotype was removed from gene: CSTB.
Tag Q2_21_expert_review was removed from gene: CSTB.
Dystonia, chorea or related movement disorder, childhood onset v1.212 FITM2 Sarah Leigh Tag Q2_21_rating was removed from gene: FITM2.
Dystonia, chorea or related movement disorder, childhood onset v1.212 FOXG1 Sarah Leigh Tag Q2_21_rating was removed from gene: FOXG1.
Dystonia, chorea or related movement disorder, childhood onset v1.212 FUCA1 Sarah Leigh Tag Q2_21_rating was removed from gene: FUCA1.
Dystonia, chorea or related movement disorder, childhood onset v1.212 GLRB Sarah Leigh Tag Q2_21_rating was removed from gene: GLRB.
Dystonia, chorea or related movement disorder, childhood onset v1.212 GNB1 Sarah Leigh Tag Q3_21_rating was removed from gene: GNB1.
Dystonia, chorea or related movement disorder, childhood onset v1.212 GRIN1 Sarah Leigh Tag Q3_21_rating was removed from gene: GRIN1.
Dystonia, chorea or related movement disorder, childhood onset v1.212 IMPDH2 Sarah Leigh Tag Q3_21_rating was removed from gene: IMPDH2.
Dystonia, chorea or related movement disorder, childhood onset v1.212 IRF2BPL Sarah Leigh Tag Q2_21_rating was removed from gene: IRF2BPL.
Dystonia, chorea or related movement disorder, childhood onset v1.212 MED27 Sarah Leigh Tag Q2_21_rating was removed from gene: MED27.
Dystonia, chorea or related movement disorder, childhood onset v1.212 SCN1A Sarah Leigh Tag Q2_21_phenotype was removed from gene: SCN1A.
Dystonia, chorea or related movement disorder, childhood onset v1.212 SLC16A2 Sarah Leigh Tag Q3_21_rating was removed from gene: SLC16A2.
Dystonia, chorea or related movement disorder, childhood onset v1.212 TARS2 Sarah Leigh Tag Q4_21_rating was removed from gene: TARS2.
Dystonia, chorea or related movement disorder, childhood onset v1.212 UBTF Sarah Leigh Tag Q2_21_rating was removed from gene: UBTF.
Dystonia, chorea or related movement disorder, childhood onset v1.212 VPS16 Sarah Leigh Tag Q2_21_rating was removed from gene: VPS16.
Dystonia, chorea or related movement disorder, childhood onset v1.212 VPS41 Sarah Leigh Tag Q2_21_rating was removed from gene: VPS41.
Clefting v2.63 POLR1B Eleanor Williams Tag for-review was removed from gene: POLR1B.
Clefting v2.63 MED25 Eleanor Williams Tag for-review was removed from gene: MED25.
Clefting v2.63 HYAL2 Eleanor Williams Tag for-review was removed from gene: HYAL2.
Clefting v2.63 MAPRE2 Eleanor Williams commented on gene: MAPRE2
Clefting v2.63 POLR1B Eleanor Williams commented on gene: POLR1B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Clefting v2.63 MED25 Eleanor Williams commented on gene: MED25: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Clefting v2.63 HYAL2 Eleanor Williams commented on gene: HYAL2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, childhood onset v1.212 VPS41 Sarah Leigh commented on gene: VPS41
Dystonia, chorea or related movement disorder, childhood onset v1.212 VPS16 Sarah Leigh commented on gene: VPS16
Dystonia, chorea or related movement disorder, childhood onset v1.212 UBTF Sarah Leigh commented on gene: UBTF
Dystonia, chorea or related movement disorder, childhood onset v1.212 TARS2 Sarah Leigh commented on gene: TARS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, childhood onset v1.212 SLC16A2 Sarah Leigh commented on gene: SLC16A2
Dystonia, chorea or related movement disorder, childhood onset v1.212 SCN1A Sarah Leigh commented on gene: SCN1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, childhood onset v1.212 MED27 Sarah Leigh commented on gene: MED27
Dystonia, chorea or related movement disorder, childhood onset v1.212 IRF2BPL Sarah Leigh commented on gene: IRF2BPL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, childhood onset v1.212 IMPDH2 Sarah Leigh commented on gene: IMPDH2
Dystonia, chorea or related movement disorder, childhood onset v1.212 HPRT1 Sarah Leigh commented on gene: HPRT1
Dystonia, chorea or related movement disorder, childhood onset v1.212 GRIN1 Sarah Leigh commented on gene: GRIN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, childhood onset v1.212 GNB1 Sarah Leigh commented on gene: GNB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, childhood onset v1.212 GLRB Sarah Leigh commented on gene: GLRB: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, childhood onset v1.212 FUCA1 Sarah Leigh commented on gene: FUCA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, childhood onset v1.212 FOXG1 Sarah Leigh commented on gene: FOXG1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, childhood onset v1.212 FITM2 Sarah Leigh commented on gene: FITM2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, childhood onset v1.212 DHDDS Sarah Leigh commented on gene: DHDDS
Dystonia, chorea or related movement disorder, childhood onset v1.212 CSTB Sarah Leigh commented on gene: CSTB: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, childhood onset v1.212 CLPB Sarah Leigh commented on gene: CLPB
Dystonia, chorea or related movement disorder, childhood onset v1.212 CAMK4 Sarah Leigh commented on gene: CAMK4
Dystonia, chorea or related movement disorder, childhood onset v1.212 C9orf72 Sarah Leigh commented on gene: C9orf72: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, childhood onset v1.212 ALDH18A1 Sarah Leigh commented on gene: ALDH18A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Clefting v2.62 MAPRE2 Eleanor Williams Source Expert list was added to MAPRE2.
Clefting v2.62 POLR1B Eleanor Williams Source Expert Review Green was added to POLR1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Clefting v2.62 MED25 Eleanor Williams Source Expert Review Green was added to MED25.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Clefting v2.62 HYAL2 Eleanor Williams Source Expert Review Green was added to HYAL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v1.211 VPS41 Sarah Leigh Source Expert Review Green was added to VPS41.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v1.211 VPS16 Sarah Leigh Source Expert Review Green was added to VPS16.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v1.211 UBTF Sarah Leigh Source Expert Review Green was added to UBTF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v1.211 TARS2 Sarah Leigh Source Expert Review Green was added to TARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v1.211 SLC16A2 Sarah Leigh Source Expert Review Green was added to SLC16A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v1.211 SCN1A Sarah Leigh Source Expert Review Green was added to SCN1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v1.211 MED27 Sarah Leigh Source Expert Review Green was added to MED27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v1.211 IRF2BPL Sarah Leigh Source Expert Review Green was added to IRF2BPL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v1.211 IMPDH2 Sarah Leigh Source Expert Review Green was added to IMPDH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Albinism or congenital nystagmus v1.22 LAMA1 Ivone Leong Tag for-review was removed from gene: LAMA1.
Dystonia, chorea or related movement disorder, childhood onset v1.211 HPRT1 Sarah Leigh Source Expert Review Green was added to HPRT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v1.211 GRIN1 Sarah Leigh Source Expert Review Green was added to GRIN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v1.211 GNB1 Sarah Leigh Source Expert Review Green was added to GNB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v1.211 GLRB Sarah Leigh Source Expert Review Green was added to GLRB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v1.211 FUCA1 Sarah Leigh Source Expert Review Green was added to FUCA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v1.211 FOXG1 Sarah Leigh Source Expert Review Green was added to FOXG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v1.211 FITM2 Sarah Leigh Source Expert Review Green was added to FITM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v1.211 DHDDS Sarah Leigh Source Expert Review Green was added to DHDDS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v1.211 CLPB Sarah Leigh Source NHS GMS was added to CLPB.
Mode of inheritance for gene CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v1.211 CAMK4 Sarah Leigh Source Expert Review Green was added to CAMK4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v1.211 C9orf72 Sarah Leigh Source Expert Review Red was added to C9orf72.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Albinism or congenital nystagmus v1.22 BLOC1S6 Ivone Leong Tag for-review was removed from gene: BLOC1S6.
Albinism or congenital nystagmus v1.22 BLOC1S3 Ivone Leong Tag for-review was removed from gene: BLOC1S3.
Albinism or congenital nystagmus v1.22 DCT Ivone Leong Tag for-review was removed from gene: DCT.
Albinism or congenital nystagmus v1.22 BLOC1S5 Ivone Leong Tag for-review was removed from gene: BLOC1S5.
Albinism or congenital nystagmus v1.22 LAMA1 Ivone Leong commented on gene: LAMA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Albinism or congenital nystagmus v1.22 BLOC1S6 Ivone Leong commented on gene: BLOC1S6
Albinism or congenital nystagmus v1.22 BLOC1S3 Ivone Leong commented on gene: BLOC1S3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Albinism or congenital nystagmus v1.22 DCT Ivone Leong commented on gene: DCT: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Albinism or congenital nystagmus v1.22 BLOC1S5 Ivone Leong commented on gene: BLOC1S5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Albinism or congenital nystagmus v1.21 LAMA1 Ivone Leong Source Expert Review Green was added to LAMA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Albinism or congenital nystagmus v1.21 BLOC1S6 Ivone Leong Source Expert Review Green was added to BLOC1S6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Albinism or congenital nystagmus v1.21 BLOC1S3 Ivone Leong Source Expert Review Green was added to BLOC1S3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Albinism or congenital nystagmus v1.21 DCT Ivone Leong Source Expert Review Green was added to DCT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Albinism or congenital nystagmus v1.21 BLOC1S5 Ivone Leong Source Expert Review Green was added to BLOC1S5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.836 ZSWIM6 Arina Puzriakova Tag for-review was removed from gene: ZSWIM6.
Fetal anomalies v1.836 ZMYND10 Arina Puzriakova Tag for-review was removed from gene: ZMYND10.
Fetal anomalies v1.836 XYLT2 Arina Puzriakova Tag for-review was removed from gene: XYLT2.
Fetal anomalies v1.836 WDR81 Arina Puzriakova Tag for-review was removed from gene: WDR81.
Fetal anomalies v1.836 WDR73 Arina Puzriakova Tag for-review was removed from gene: WDR73.
Pancreatitis v2.12 CELA3B Ivone Leong Tag Q2_21_rating was removed from gene: CELA3B.
Tag Q2_21_NHS_review was removed from gene: CELA3B.
Fetal anomalies v1.836 VRK1 Arina Puzriakova Tag for-review was removed from gene: VRK1.
Fetal anomalies v1.836 VEGFC Arina Puzriakova Tag for-review was removed from gene: VEGFC.
Pancreatitis v2.12 CELA3B Ivone Leong commented on gene: CELA3B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 VAMP1 Arina Puzriakova Tag for-review was removed from gene: VAMP1.
Pancreatitis v2.11 CELA3B Ivone Leong Source Expert Review Green was added to CELA3B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.836 USP9X Arina Puzriakova Tag for-review was removed from gene: USP9X.
Fetal anomalies v1.836 USP18 Arina Puzriakova Tag for-review was removed from gene: USP18.
Fetal anomalies v1.836 UBE2T Arina Puzriakova Tag for-review was removed from gene: UBE2T.
Intestinal failure or congenital diarrhoea v1.46 CLMP Ivone Leong Tag Q2_21_rating was removed from gene: CLMP.
Tag Q2_21_NHS_review was removed from gene: CLMP.
Intestinal failure or congenital diarrhoea v1.46 FLNA Ivone Leong Tag Q2_21_rating was removed from gene: FLNA.
Tag Q2_21_NHS_review was removed from gene: FLNA.
Fetal anomalies v1.836 TXNDC15 Arina Puzriakova Tag for-review was removed from gene: TXNDC15.
Intestinal failure or congenital diarrhoea v1.46 FLNA Ivone Leong commented on gene: FLNA: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intestinal failure or congenital diarrhoea v1.46 CLMP Ivone Leong commented on gene: CLMP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intestinal failure or congenital diarrhoea v1.45 FLNA Ivone Leong Source Expert Review Green was added to FLNA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v1.45 CLMP Ivone Leong Source Expert Review Green was added to CLMP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.836 TUBGCP4 Arina Puzriakova Tag for-review was removed from gene: TUBGCP4.
Fetal anomalies v1.836 TUBG1 Arina Puzriakova Tag for-review was removed from gene: TUBG1.
Fetal anomalies v1.836 TUBB3 Arina Puzriakova Tag for-review was removed from gene: TUBB3.
Fetal anomalies v1.836 TSFM Arina Puzriakova Tag for-review was removed from gene: TSFM.
Fetal anomalies v1.836 TSEN34 Arina Puzriakova Tag for-review was removed from gene: TSEN34.
Fetal anomalies v1.836 TSEN2 Arina Puzriakova Tag for-review was removed from gene: TSEN2.
Fetal anomalies v1.836 TRMT10A Arina Puzriakova Tag for-review was removed from gene: TRMT10A.
Fetal anomalies v1.836 TRAPPC12 Arina Puzriakova changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TRAPPC12 Arina Puzriakova edited their review of gene: TRAPPC12: Changed rating: GREEN
Fetal anomalies v1.836 TRAPPC12 Arina Puzriakova Tag watchlist was removed from gene: TRAPPC12.
Fetal anomalies v1.836 TRAP1 Arina Puzriakova Tag for-review was removed from gene: TRAP1.
Fetal anomalies v1.836 TRAIP Arina Puzriakova Tag for-review was removed from gene: TRAIP.
Fetal anomalies v1.836 TRAF3IP1 Arina Puzriakova Tag for-review was removed from gene: TRAF3IP1.
Fetal anomalies v1.836 TOR1A Arina Puzriakova Tag for-review was removed from gene: TOR1A.
Fetal anomalies v1.836 TOE1 Arina Puzriakova Tag for-review was removed from gene: TOE1.
Fetal anomalies v1.836 TNNT3 Arina Puzriakova Tag for-review was removed from gene: TNNT3.
Fetal anomalies v1.836 TMX2 Arina Puzriakova Tag for-review was removed from gene: TMX2.
Fetal anomalies v1.836 TMEM98 Arina Puzriakova Tag for-review was removed from gene: TMEM98.
Fetal anomalies v1.836 TMEM38B Arina Puzriakova Tag for-review was removed from gene: TMEM38B.
Fetal anomalies v1.836 TMEM216 Arina Puzriakova Tag for-review was removed from gene: TMEM216.
Fetal anomalies v1.836 TMEM107 Arina Puzriakova Tag for-review was removed from gene: TMEM107.
Fetal anomalies v1.836 TENM3 Arina Puzriakova Tag for-review was removed from gene: TENM3.
Fetal anomalies v1.836 TELO2 Arina Puzriakova Tag for-review was removed from gene: TELO2.
Cholestasis v1.105 TRMU Ivone Leong Tag for-review was removed from gene: TRMU.
Tag Q1_22_NHS_review was removed from gene: TRMU.
Fetal anomalies v1.836 TCTEX1D2 Arina Puzriakova Tag for-review was removed from gene: TCTEX1D2.
Fetal anomalies v1.836 TBC1D32 Arina Puzriakova Tag for-review was removed from gene: TBC1D32.
Cholestasis v1.105 SMPD1 Ivone Leong Tag for-review was removed from gene: SMPD1.
Tag Q1_22_NHS_review was removed from gene: SMPD1.
Fetal anomalies v1.836 SULT2B1 Arina Puzriakova Tag for-review was removed from gene: SULT2B1.
Fetal anomalies v1.836 SUFU Arina Puzriakova Tag watchlist was removed from gene: SUFU.
Tag for-review was removed from gene: SUFU.
Cholestasis v1.105 RINT1 Ivone Leong Tag for-review was removed from gene: RINT1.
Tag Q1_22_NHS_review was removed from gene: RINT1.
Cholestasis v1.105 POLG Ivone Leong Tag for-review was removed from gene: POLG.
Tag Q1_22_NHS_review was removed from gene: POLG.
Fetal anomalies v1.836 STRADA Arina Puzriakova Tag for-review was removed from gene: STRADA.
Cholestasis v1.105 MVK Ivone Leong Tag for-review was removed from gene: MVK.
Tag Q1_22_NHS_review was removed from gene: MVK.
Fetal anomalies v1.836 STIL Arina Puzriakova Tag for-review was removed from gene: STIL.
Fetal anomalies v1.836 STAC3 Arina Puzriakova Tag for-review was removed from gene: STAC3.
Cholestasis v1.105 MPI Ivone Leong Tag for-review was removed from gene: MPI.
Tag Q4_21_NHS_review was removed from gene: MPI.
Fetal anomalies v1.836 ST14 Arina Puzriakova Tag for-review was removed from gene: ST14.
Cholestasis v1.105 LIPA Ivone Leong Tag for-review was removed from gene: LIPA.
Tag Q4_21_NHS_review was removed from gene: LIPA.
Fetal anomalies v1.836 SPECC1L Arina Puzriakova Tag for-review was removed from gene: SPECC1L.
Cholestasis v1.105 HADHA Ivone Leong Tag for-review was removed from gene: HADHA.
Tag Q1_22_NHS_review was removed from gene: HADHA.
Fetal anomalies v1.836 SPARC Arina Puzriakova Tag for-review was removed from gene: SPARC.
Fetal anomalies v1.836 SP7 Arina Puzriakova Tag for-review was removed from gene: SP7.
Cholestasis v1.105 GBE1 Ivone Leong Tag for-review was removed from gene: GBE1.
Fetal anomalies v1.836 SOX6 Arina Puzriakova Tag for-review was removed from gene: SOX6.
Fetal anomalies v1.836 SOX18 Arina Puzriakova Tag for-review was removed from gene: SOX18.
Cholestasis v1.105 CFTR Ivone Leong Tag for-review was removed from gene: CFTR.
Tag Q4_21_NHS_review was removed from gene: CFTR.
Fetal anomalies v1.836 SNX10 Arina Puzriakova Tag for-review was removed from gene: SNX10.
Fetal anomalies v1.836 SMS Arina Puzriakova Tag for-review was removed from gene: SMS.
Cholestasis v1.105 ADK Ivone Leong Tag for-review was removed from gene: ADK.
Tag Q4_21_NHS_review was removed from gene: ADK.
Fetal anomalies v1.836 SMPD4 Arina Puzriakova Tag for-review was removed from gene: SMPD4.
Cholestasis v1.105 NBAS Ivone Leong Tag for-review was removed from gene: NBAS.
Tag Q1_22_NHS_review was removed from gene: NBAS.
Cholestasis v1.105 GALK1 Ivone Leong Tag for-review was removed from gene: GALK1.
Cholestasis v1.105 GALE Ivone Leong Tag for-review was removed from gene: GALE.
Tag Q1_22_NHS_review was removed from gene: GALE.
Cholestasis v1.105 ZFYVE19 Ivone Leong Tag for-review was removed from gene: ZFYVE19.
Cholestasis v1.105 YARS Ivone Leong Tag watchlist was removed from gene: YARS.
Tag for-review was removed from gene: YARS.
Cholestasis v1.105 USP53 Ivone Leong Tag for-review was removed from gene: USP53.
Cholestasis v1.105 UNC45A Ivone Leong Tag for-review was removed from gene: UNC45A.
Cholestasis v1.105 PKHD1 Ivone Leong Tag for-review was removed from gene: PKHD1.
Cholestasis v1.105 MPV17 Ivone Leong Tag for-review was removed from gene: MPV17.
Cholestasis v1.105 KIF12 Ivone Leong Tag for-review was removed from gene: KIF12.
Cholestasis v1.105 HNF1B Ivone Leong Tag for-review was removed from gene: HNF1B.
Cholestasis v1.105 GBA Ivone Leong Tag for-review was removed from gene: GBA.
Cholestasis v1.105 GALT Ivone Leong Tag for-review was removed from gene: GALT.
Cholestasis v1.105 GALM Ivone Leong Tag for-review was removed from gene: GALM.
Cholestasis v1.105 DGUOK Ivone Leong Tag for-review was removed from gene: DGUOK.
Cholestasis v1.105 CYP7B1 Ivone Leong Tag for-review was removed from gene: CYP7B1.
Cholestasis v1.105 COG7 Ivone Leong Tag for-review was removed from gene: COG7.
Cholestasis v1.105 ATP7B Ivone Leong Tag for-review was removed from gene: ATP7B.
Cholestasis v1.105 TRMU Ivone Leong commented on gene: TRMU: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 SMPD1 Ivone Leong commented on gene: SMPD1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 RINT1 Ivone Leong commented on gene: RINT1
Cholestasis v1.105 POLG Ivone Leong commented on gene: POLG: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 MVK Ivone Leong commented on gene: MVK: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 MPI Ivone Leong commented on gene: MPI: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 LIPA Ivone Leong commented on gene: LIPA: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 HADHA Ivone Leong commented on gene: HADHA: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 GBE1 Ivone Leong commented on gene: GBE1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 CFTR Ivone Leong commented on gene: CFTR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.