Activity

Filter

Cancel
Date Panel Item Activity
3000 actions
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 NOP56_GGCCTG Arina Puzriakova commented on STR: NOP56_GGCCTG
Ataxia and cerebellar anomalies - narrow panel v2.288 NOP56_GGCCTG Arina Puzriakova commented on STR: NOP56_GGCCTG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Amyotrophic lateral sclerosis/motor neuron disease v1.56 NOP56_GGCCTG Arina Puzriakova commented on STR: NOP56_GGCCTG
Early onset or syndromic epilepsy v2.498 SLC5A6 Sarah Leigh commented on gene: SLC5A6: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required.
Rhabdomyolysis and metabolic muscle disorders v1.78 ISCU Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: ISCU.
Lysosomal storage disorder v1.78 ARSG Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least five variants reported in at least four unrelated cases, together with supportive functional and animal models.; to: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least five variants reported in at least four unrelated cases, together with supportive functional studies and animal models.
Adult onset dystonia, chorea or related movement disorder v1.166 JPH3_CTG Sarah Leigh commented on STR: JPH3_CTG
Adult onset neurodegenerative disorder v2.267 JPH3_CTG Sarah Leigh commented on STR: JPH3_CTG
Early onset dystonia v1.111 JPH3_CTG Sarah Leigh commented on STR: JPH3_CTG
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 JPH3_CTG Sarah Leigh commented on STR: JPH3_CTG
Parkinson Disease and Complex Parkinsonism v1.105 JPH3_CTG Sarah Leigh commented on STR: JPH3_CTG
Skeletal muscle channelopathy v1.39 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Hereditary ataxia with onset in adulthood v2.147 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Mitochondrial disorders v2.92 FXN_GAA Sarah Leigh commented on STR: FXN_GAA: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Intellectual disability v3.1519 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Hereditary neuropathy v1.441 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Paroxysmal central nervous system disorders v1.40 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Likely inborn error of metabolism v2.229 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Adult onset neurodegenerative disorder v2.267 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Adult onset hereditary spastic paraplegia v1.95 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Childhood onset hereditary spastic paraplegia v2.130 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Hereditary spastic paraplegia v1.289 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Hypertrophic cardiomyopathy v2.38 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Hereditary ataxia v1.298 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Ataxia and cerebellar anomalies - narrow panel v2.288 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Skeletal Muscle Channelopathies v1.45 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Mitochondrial disorders v2.92 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Paediatric motor neuronopathies v1.76 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Intellectual disability v3.1519 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Gastrointestinal neuromuscular disorders v1.21 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Fetal hydrops v1.50 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Fetal anomalies v1.842 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Childhood onset dystonia, chorea or related movement disorder v1.217 CSTB_CCCCGCCCCGCG Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG
Adult onset dystonia, chorea or related movement disorder v1.166 CSTB_CCCCGCCCCGCG Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG
Hereditary ataxia with onset in adulthood v2.147 CSTB_CCCCGCCCCGCG Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG
Intellectual disability v3.1519 CSTB_CCCCGCCCCGCG Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG
Early onset or syndromic epilepsy v2.498 CSTB_CCCCGCCCCGCG Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG
Adult onset neurodegenerative disorder v2.267 CSTB_CCCCGCCCCGCG Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG
Paroxysmal central nervous system disorders v1.40 CSTB_CCCCGCCCCGCG Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG
Hereditary ataxia v1.298 CSTB_CCCCGCCCCGCG Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG
Ataxia and cerebellar anomalies - narrow panel v2.288 CSTB_CCCCGCCCCGCG Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Brain channelopathy v1.77 CSTB_CCCCGCCCCGCG Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG
Likely inborn error of metabolism v2.229 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
DDG2P v2.65 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Congenital myopathy v2.79 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Congenital muscular dystrophy v2.27 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Skeletal muscle channelopathy v1.39 CNBP_CCTG Eleanor Williams commented on STR: CNBP_CCTG
Skeletal Muscle Channelopathies v1.45 CNBP_CCTG Eleanor Williams commented on STR: CNBP_CCTG
Fetal anomalies v1.842 CNBP_CCTG Eleanor Williams commented on STR: CNBP_CCTG
Hereditary ataxia with onset in adulthood v2.147 FMR1_CGG Sarah Leigh commented on STR: FMR1_CGG
Intellectual disability v3.1519 FMR1_CGG Sarah Leigh commented on STR: FMR1_CGG
Hereditary neuropathy v1.441 FMR1_CGG Sarah Leigh commented on STR: FMR1_CGG
Distal myopathies v1.45 CNBP_CCTG Eleanor Williams commented on STR: CNBP_CCTG
Hereditary ataxia v1.298 FMR1_CGG Sarah Leigh commented on STR: FMR1_CGG
Primary ovarian insufficiency v1.67 FMR1_CGG Sarah Leigh commented on STR: FMR1_CGG
Paroxysmal central nervous system disorders v1.40 CACNA1A_CAG Eleanor Williams commented on STR: CACNA1A_CAG
Adult onset neurodegenerative disorder v2.267 CACNA1A_CAG Eleanor Williams commented on STR: CACNA1A_CAG
Childhood onset hereditary spastic paraplegia v2.130 CACNA1A_CAG Eleanor Williams commented on STR: CACNA1A_CAG
Adult onset hereditary spastic paraplegia v1.95 CACNA1A_CAG Eleanor Williams commented on STR: CACNA1A_CAG
Hereditary spastic paraplegia v1.289 CACNA1A_CAG Eleanor Williams commented on STR: CACNA1A_CAG
Hereditary ataxia with onset in adulthood v2.147 CACNA1A_CAG Eleanor Williams commented on STR: CACNA1A_CAG
Hereditary ataxia v1.298 CACNA1A_CAG Eleanor Williams commented on STR: CACNA1A_CAG
Brain channelopathy v1.77 CACNA1A_CAG Eleanor Williams commented on STR: CACNA1A_CAG
Ataxia and cerebellar anomalies - narrow panel v2.288 CACNA1A_CAG Eleanor Williams commented on STR: CACNA1A_CAG
Adult onset dystonia, chorea or related movement disorder v1.166 CACNA1A_CAG Eleanor Williams commented on STR: CACNA1A_CAG
Adult onset neurodegenerative disorder v2.267 C9orf72_GGGGCC Eleanor Williams commented on STR: C9orf72_GGGGCC
Parkinson Disease and Complex Parkinsonism v1.105 C9orf72_GGGGCC Eleanor Williams commented on STR: C9orf72_GGGGCC
Intellectual disability v3.1519 C9orf72_GGGGCC Eleanor Williams commented on STR: C9orf72_GGGGCC
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 C9orf72_GGGGCC Eleanor Williams commented on STR: C9orf72_GGGGCC
Childhood onset dystonia, chorea or related movement disorder v1.217 C9orf72_GGGGCC Eleanor Williams commented on STR: C9orf72_GGGGCC
Amyotrophic lateral sclerosis/motor neuron disease v1.56 C9orf72_GGGGCC Eleanor Williams commented on STR: C9orf72_GGGGCC
Adult onset dystonia, chorea or related movement disorder v1.166 C9orf72_GGGGCC Eleanor Williams commented on STR: C9orf72_GGGGCC
Adult onset neurodegenerative disorder v2.267 ATXN7_CAG Eleanor Williams commented on STR: ATXN7_CAG
Undiagnosed metabolic disorders v1.513 ATXN7_CAG Eleanor Williams commented on STR: ATXN7_CAG
Intellectual disability v3.1519 ATXN7_CAG Eleanor Williams commented on STR: ATXN7_CAG
Childhood onset hereditary spastic paraplegia v2.130 ATXN7_CAG Eleanor Williams commented on STR: ATXN7_CAG
Adult onset hereditary spastic paraplegia v1.95 ATXN7_CAG Eleanor Williams commented on STR: ATXN7_CAG
Hereditary spastic paraplegia v1.289 ATXN7_CAG Eleanor Williams commented on STR: ATXN7_CAG
Hereditary neuropathy v1.441 ATXN7_CAG Eleanor Williams commented on STR: ATXN7_CAG
Hereditary ataxia with onset in adulthood v2.147 ATXN7_CAG Eleanor Williams commented on STR: ATXN7_CAG
Hereditary ataxia v1.298 ATXN7_CAG Eleanor Williams commented on STR: ATXN7_CAG
Ataxia and cerebellar anomalies - narrow panel v2.288 ATXN7_CAG Eleanor Williams commented on STR: ATXN7_CAG
Adult onset neurodegenerative disorder v2.267 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Parkinson Disease and Complex Parkinsonism v1.105 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Intellectual disability v3.1519 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Childhood onset hereditary spastic paraplegia v2.130 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Adult onset hereditary spastic paraplegia v1.95 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Hereditary spastic paraplegia v1.289 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Hereditary neuropathy v1.441 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Hereditary ataxia v1.298 ATXN3 Eleanor Williams Deleted their review
Hereditary ataxia v1.298 ATXN3 Eleanor Williams Deleted their comment
Hereditary ataxia v1.298 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Hereditary ataxia with onset in adulthood v2.147 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Hereditary ataxia with onset in adulthood v2.147 ATXN3 Eleanor Williams Deleted their review
Hereditary ataxia with onset in adulthood v2.147 ATXN3 Eleanor Williams Deleted their comment
Hereditary ataxia with onset in adulthood v2.147 ATXN3 Eleanor Williams commented on gene: ATXN3
Hereditary ataxia v1.298 ATXN3 Eleanor Williams commented on gene: ATXN3
Early onset dystonia v1.111 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Ataxia and cerebellar anomalies - narrow panel v2.288 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Adult onset dystonia, chorea or related movement disorder v1.166 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Parkinson Disease and Complex Parkinsonism v1.105 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Adult onset neurodegenerative disorder v2.267 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Intellectual disability v3.1519 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Childhood onset hereditary spastic paraplegia v2.130 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Adult onset hereditary spastic paraplegia v1.95 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Hereditary spastic paraplegia v1.289 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Hereditary neuropathy v1.441 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Hereditary ataxia with onset in adulthood v2.147 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Hereditary ataxia v1.298 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Early onset dystonia v1.111 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Childhood onset dystonia, chorea or related movement disorder v1.217 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Ataxia and cerebellar anomalies - narrow panel v2.288 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Amyotrophic lateral sclerosis/motor neuron disease v1.56 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Adult onset dystonia, chorea or related movement disorder v1.166 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Thoracic dystrophies v1.18 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Skeletal dysplasia v2.189 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Adult onset neurodegenerative disorder v2.267 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Intellectual disability v3.1519 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Childhood onset hereditary spastic paraplegia v2.130 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Adult onset hereditary spastic paraplegia v1.95 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Hereditary spastic paraplegia v1.289 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Hereditary neuropathy v1.441 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Hereditary ataxia with onset in adulthood v2.147 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Hereditary ataxia v1.298 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Early onset dystonia v1.111 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Ataxia and cerebellar anomalies - narrow panel v2.288 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Hereditary ataxia v1.298 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Ataxia and cerebellar anomalies - narrow panel v2.288 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Adult onset dystonia, chorea or related movement disorder v1.166 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Adult onset neurodegenerative disorder v2.267 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Parkinson Disease and Complex Parkinsonism v1.105 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Intellectual disability v3.1519 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Childhood onset hereditary spastic paraplegia v2.130 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Adult onset hereditary spastic paraplegia v1.95 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Hereditary spastic paraplegia v1.289 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Hereditary neuropathy v1.441 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Hereditary ataxia with onset in adulthood v2.147 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Paroxysmal central nervous system disorders v1.40 ATN1_CAG Ivone Leong commented on STR: ATN1_CAG
Adult onset neurodegenerative disorder v2.267 ATN1_CAG Ivone Leong commented on STR: ATN1_CAG
Parkinson Disease and Complex Parkinsonism v1.105 ATN1_CAG Ivone Leong commented on STR: ATN1_CAG
Hereditary ataxia with onset in adulthood v2.147 ATN1_CAG Ivone Leong commented on STR: ATN1_CAG
Hereditary ataxia v1.298 ATN1_CAG Ivone Leong commented on STR: ATN1_CAG
Early onset or syndromic epilepsy v2.498 ATN1_CAG Ivone Leong commented on STR: ATN1_CAG
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 ATN1_CAG Ivone Leong commented on STR: ATN1_CAG
Brain channelopathy v1.77 ATN1_CAG Ivone Leong commented on STR: ATN1_CAG
Ataxia and cerebellar anomalies - narrow panel v2.288 ATN1_CAG Ivone Leong commented on STR: ATN1_CAG
Adult onset dystonia, chorea or related movement disorder v1.166 ATN1_CAG Ivone Leong commented on STR: ATN1_CAG
Adult onset neurodegenerative disorder v2.267 AR_CAG Ivone Leong commented on STR: AR_CAG
Paediatric motor neuronopathies v1.76 AR_CAG Ivone Leong commented on STR: AR_CAG
Hereditary neuropathy or pain disorder v1.88 AR_CAG Ivone Leong commented on STR: AR_CAG
Hereditary neuropathy v1.441 AR_CAG Ivone Leong commented on STR: AR_CAG
Distal myopathies v1.45 AR_CAG Ivone Leong commented on STR: AR_CAG
Congenital myopathy v2.79 AR_CAG Ivone Leong commented on STR: AR_CAG
Amyotrophic lateral sclerosis/motor neuron disease v1.56 AR_CAG Ivone Leong commented on STR: AR_CAG
Dilated Cardiomyopathy and conduction defects v1.77 LDB3 Ivone Leong Classified gene: LDB3 as Amber List (moderate evidence)
Dilated Cardiomyopathy and conduction defects v1.77 LDB3 Ivone Leong Added comment: Comment on list classification: Demoted from Green to Amber. This gene is associated with a phenotype in OMIM and Gene2Phenotype (requires clinical review). However, based on the expert reviews there is not enough evidence to support a gene-disease association. Therefore this gene has been given an Amber rating.
Dilated Cardiomyopathy and conduction defects v1.77 LDB3 Ivone Leong Gene: ldb3 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy and conduction defects v1.76 LDB3 Ivone Leong Added comment: Comment on publications: Added new publications
Dilated Cardiomyopathy and conduction defects v1.76 LDB3 Ivone Leong Publications for gene: LDB3 were set to
Segmental overgrowth disorders - Deep sequencing v2.16 PADI6 Catherine Snow Tag for-review was removed from gene: PADI6.
Segmental overgrowth disorders - Deep sequencing v2.16 SUZ12 Catherine Snow Tag for-review was removed from gene: SUZ12.
Segmental overgrowth disorders - Deep sequencing v2.16 SUZ12 Catherine Snow commented on gene: SUZ12
Segmental overgrowth disorders - Deep sequencing v2.16 PADI6 Catherine Snow commented on gene: PADI6
Segmental overgrowth disorders - Deep sequencing v2.15 SUZ12 Catherine Snow Source Expert Review Green was added to SUZ12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Segmental overgrowth disorders - Deep sequencing v2.15 PADI6 Catherine Snow Source Expert Review Green was added to PADI6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v1.45 ANAPC1 Catherine Snow Tag for-review was removed from gene: ANAPC1.
Pigmentary skin disorders v1.45 ANAPC1 Catherine Snow commented on gene: ANAPC1
Pigmentary skin disorders v1.44 ANAPC1 Catherine Snow Source Expert Review Green was added to ANAPC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Palmoplantar keratodermas v1.12 ST14 Catherine Snow Tag for-review was removed from gene: ST14.
Palmoplantar keratodermas v1.12 ST14 Catherine Snow commented on gene: ST14
Palmoplantar keratodermas v1.11 ST14 Catherine Snow Source Expert Review Red was added to ST14.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cutaneous photosensitivity with a likely genetic cause v1.10 ANAPC1 Catherine Snow Tag for-review was removed from gene: ANAPC1.
Tag Q4_21_NHS_review was removed from gene: ANAPC1.
Cutaneous photosensitivity with a likely genetic cause v1.10 ANAPC1 Catherine Snow commented on gene: ANAPC1: Submitted on behalf of NHS GMS "Agree. There is an intronic variant which will be outside the targeted region of exomes which has been identified in multiple patients (c.2705-198C-T, NM_022662.3). This gene will also provide difficulties due to pseudogenes - coverage of uniquely mapping reads is ~50% (TWIST exome).""Green - mutations in ANAPC1 cause RTS type 1 (e.g. Ajeawung et al. AJHG 2019)"
Cutaneous photosensitivity with a likely genetic cause v1.10 ANAPC1 Catherine Snow commented on gene: ANAPC1
Cutaneous photosensitivity with a likely genetic cause v1.9 ANAPC1 Catherine Snow Source Expert Review Green was added to ANAPC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ectodermal dysplasia v1.37 C3orf52 Catherine Snow Tag for-review was removed from gene: C3orf52.
Ectodermal dysplasia v1.37 ANAPC1 Catherine Snow Tag for-review was removed from gene: ANAPC1.
Tag Q4_21_NHS_review was removed from gene: ANAPC1.
Ectodermal dysplasia v1.37 ST14 Catherine Snow Tag for-review was removed from gene: ST14.
Ectodermal dysplasia v1.37 ST14 Catherine Snow changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.Submitted on behalf of NHS GMS "I think we can keep ST14 green for ED because there is skin and hair involvement and some cases may well come as a hair phenotype query"; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Submitted on behalf of NHS GMS."I think we can keep ST14 green for ED because there is skin and hair involvement and some cases may well come as a hair phenotype query"
Ectodermal dysplasia v1.37 PRKD1 Catherine Snow changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.Submitted on behalf of NHS GMS "Green - rare form of EB (telangietasia-ED-brachydactyly-cardia anomaly syndrome) (Alter et al. J Med Genet 2021)"; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.Submitted on behalf of NHS GMS.
"Green - rare form of EB (telangietasia-ED-brachydactyly-cardia anomaly syndrome) (Alter et al. J Med Genet 2021)"
Ectodermal dysplasia v1.37 PRKD1 Catherine Snow Tag for-review was removed from gene: PRKD1.
Ectodermal dysplasia v1.37 C3orf52 Catherine Snow commented on gene: C3orf52
Ectodermal dysplasia v1.37 ANAPC1 Catherine Snow commented on gene: ANAPC1
Ectodermal dysplasia v1.37 ST14 Catherine Snow commented on gene: ST14
Ectodermal dysplasia v1.37 PRKD1 Catherine Snow commented on gene: PRKD1
Ectodermal dysplasia v1.36 C3orf52 Catherine Snow Source Expert Review Green was added to C3orf52.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ectodermal dysplasia v1.36 ANAPC1 Catherine Snow Source Expert Review Green was added to ANAPC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ectodermal dysplasia v1.36 ST14 Catherine Snow Source Expert Review Green was added to ST14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ectodermal dysplasia v1.36 PRKD1 Catherine Snow Source Expert Review Green was added to PRKD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 CACNA1I Ivone Leong Tag Q4_21_rating was removed from gene: CACNA1I.
Intellectual disability v3.1519 ZNF699 Ivone Leong Tag Q4_21_rating was removed from gene: ZNF699.
Intellectual disability v3.1519 YIPF5 Ivone Leong Tag Q2_21_rating was removed from gene: YIPF5.
Intellectual disability v3.1519 WDR4 Ivone Leong Tag Q2_21_rating was removed from gene: WDR4.
Intellectual disability v3.1519 VPS41 Ivone Leong Tag Q2_21_rating was removed from gene: VPS41.
Intellectual disability v3.1519 VPS11 Ivone Leong Tag Q2_21_rating was removed from gene: VPS11.
Intellectual disability v3.1519 UFSP2 Ivone Leong Tag Q2_21_rating was removed from gene: UFSP2.
Tag Q2_21_expert_review was removed from gene: UFSP2.
Intellectual disability v3.1519 UBE4A Ivone Leong Tag Q2_21_rating was removed from gene: UBE4A.
Intellectual disability v3.1519 TP73 Ivone Leong Tag Q3_21_rating was removed from gene: TP73.
Intellectual disability v3.1519 TNPO2 Ivone Leong Tag Q3_21_rating was removed from gene: TNPO2.
Intellectual disability v3.1519 TMEM222 Ivone Leong Tag Q2_21_rating was removed from gene: TMEM222.
Intellectual disability v3.1519 TCF7L2 Ivone Leong Tag Q4_21_rating was removed from gene: TCF7L2.
Intellectual disability v3.1519 SYNCRIP Ivone Leong Tag Q3_21_rating was removed from gene: SYNCRIP.
Intellectual disability v3.1519 SPTBN1 Ivone Leong Tag Q3_21_rating was removed from gene: SPTBN1.
Intellectual disability v3.1519 SPEN Ivone Leong Tag Q2_21_rating was removed from gene: SPEN.
Intellectual disability v3.1519 SNIP1 Ivone Leong Tag Q4_21_expert_review was removed from gene: SNIP1.
Intellectual disability v3.1519 SMARCA5 Ivone Leong Tag Q2_21_rating was removed from gene: SMARCA5.
Tag Q2_21_NHS_review was removed from gene: SMARCA5.
Intellectual disability v3.1519 SIN3B Ivone Leong Tag Q2_21_rating was removed from gene: SIN3B.
Intellectual disability v3.1519 SIAH1 Ivone Leong Tag Q2_21_rating was removed from gene: SIAH1.
Intellectual disability v3.1519 SCYL1 Ivone Leong Tag Q2_21_rating was removed from gene: SCYL1.
Intellectual disability v3.1519 SATB1 Ivone Leong Tag Q2_21_rating was removed from gene: SATB1.
Intellectual disability v3.1519 RFX7 Ivone Leong Tag Q3_21_rating was removed from gene: RFX7.
Intellectual disability v3.1519 RFX4 Ivone Leong Tag Q3_21_rating was removed from gene: RFX4.
Intellectual disability v3.1519 RFX3 Ivone Leong Tag Q3_21_rating was removed from gene: RFX3.
Intellectual disability v3.1519 PTPN4 Ivone Leong Tag Q3_21_rating was removed from gene: PTPN4.
Intellectual disability v3.1519 PRICKLE2 Ivone Leong Tag Q4_21_rating was removed from gene: PRICKLE2.
Intellectual disability v3.1519 PIGC Ivone Leong Tag Q2_21_rating was removed from gene: PIGC.
Intellectual disability v3.1519 PIDD1 Ivone Leong Tag Q3_21_rating was removed from gene: PIDD1.
Intellectual disability v3.1519 PI4KA Ivone Leong Tag Q3_21_rating was removed from gene: PI4KA.
Intellectual disability v3.1519 PGM2L1 Ivone Leong Tag Q3_21_rating was removed from gene: PGM2L1.
Intellectual disability v3.1519 PCDHGC4 Ivone Leong Tag Q3_21_rating was removed from gene: PCDHGC4.
Intellectual disability v3.1519 OTUD5 Ivone Leong Tag Q2_21_rating was removed from gene: OTUD5.
Intellectual disability v3.1519 NEUROD2 Ivone Leong Tag Q2_21_rating was removed from gene: NEUROD2.
Intellectual disability v3.1519 NCKAP1 Ivone Leong Tag Q2_21_rating was removed from gene: NCKAP1.
Intellectual disability v3.1519 NCDN Ivone Leong Tag Q2_21_rating was removed from gene: NCDN.
Intellectual disability v3.1519 MINPP1 Ivone Leong Tag Q2_21_rating was removed from gene: MINPP1.
Intellectual disability v3.1519 MED27 Ivone Leong Tag Q2_21_rating was removed from gene: MED27.
Intellectual disability v3.1519 MAP1B Ivone Leong Tag Q3_21_rating was removed from gene: MAP1B.
Intellectual disability v3.1519 LINGO4 Ivone Leong Tag Q3_21_rating was removed from gene: LINGO4.
Intellectual disability v3.1519 KCND2 Ivone Leong Tag Q4_21_rating was removed from gene: KCND2.
Intellectual disability v3.1519 KDM3B Ivone Leong Tag Q2_21_rating was removed from gene: KDM3B.
Intellectual disability v3.1519 KCNN2 Ivone Leong Tag Q2_21_rating was removed from gene: KCNN2.
Intellectual disability v3.1519 IMPDH2 Ivone Leong Tag Q3_21_rating was removed from gene: IMPDH2.
Intellectual disability v3.1519 HPDL Ivone Leong Tag Q2_21_rating was removed from gene: HPDL.
Intellectual disability v3.1519 HNMT Ivone Leong Tag Q3_21_rating was removed from gene: HNMT.
Tag Q3_21_NHS_review was removed from gene: HNMT.
Intellectual disability v3.1519 HIST1H4C Ivone Leong Tag Q3_21_rating was removed from gene: HIST1H4C.
Intellectual disability v3.1519 HID1 Ivone Leong Tag Q3_21_rating was removed from gene: HID1.
Intellectual disability v3.1519 GTF2E2 Ivone Leong Tag Q3_21_rating was removed from gene: GTF2E2.
Intellectual disability v3.1519 GNB2 Ivone Leong Tag Q3_21_rating was removed from gene: GNB2.
Intellectual disability v3.1519 GEMIN5 Ivone Leong Tag Q2_21_rating was removed from gene: GEMIN5.
Intellectual disability v3.1519 GABRD Ivone Leong Tag Q4_21_rating was removed from gene: GABRD.
Intellectual disability v3.1519 FARSA Ivone Leong Tag Q4_21_rating was removed from gene: FARSA.
Intellectual disability v3.1519 FBXO31 Ivone Leong Tag Q2_21_rating was removed from gene: FBXO31.
Intellectual disability v3.1519 ERBB4 Ivone Leong Tag Q2_21_rating was removed from gene: ERBB4.
Tag Q2_21_NHS_review was removed from gene: ERBB4.
Intellectual disability v3.1519 EMC10 Ivone Leong Tag Q2_21_rating was removed from gene: EMC10.
Intellectual disability v3.1519 EIF5A Ivone Leong Tag Q2_21_rating was removed from gene: EIF5A.
Intellectual disability v3.1519 DPYSL5 Ivone Leong Tag Q3_21_rating was removed from gene: DPYSL5.
Intellectual disability v3.1519 DPYS Ivone Leong Tag Q2_21_expert_review was removed from gene: DPYS.
Intellectual disability v3.1519 DPM2 Ivone Leong Tag Q2_21_rating was removed from gene: DPM2.
Intellectual disability v3.1519 DDB1 Ivone Leong Tag Q2_21_rating was removed from gene: DDB1.
Intellectual disability v3.1519 CAMK4 Ivone Leong Tag Q3_21_rating was removed from gene: CAMK4.
Intellectual disability v3.1519 CLCN3 Ivone Leong Tag Q3_21_rating was removed from gene: CLCN3.
Intellectual disability v3.1519 CHD5 Ivone Leong Tag Q3_21_rating was removed from gene: CHD5.
Intellectual disability v3.1519 CEP85L Ivone Leong Tag Q3_21_rating was removed from gene: CEP85L.
Intellectual disability v3.1519 CAPN15 Ivone Leong Tag Q2_21_rating was removed from gene: CAPN15.
Intellectual disability v3.1519 CPE Ivone Leong Tag Q3_21_rating was removed from gene: CPE.
Intellectual disability v3.1519 COPB2 Ivone Leong Tag Q3_21_rating was removed from gene: COPB2.
Intellectual disability v3.1519 CTC1 Ivone Leong Tag Q3_21_rating was removed from gene: CTC1.
Intellectual disability v3.1519 CDH15 Ivone Leong Tag watchlist was removed from gene: CDH15.
Intellectual disability v3.1519 CDH15 Ivone Leong Tag Q4_21_rating was removed from gene: CDH15.
Tag watchlist tag was added to gene: CDH15.
Intellectual disability v3.1519 BCAS3 Ivone Leong Tag Q2_21_rating was removed from gene: BCAS3.
Intellectual disability v3.1519 ATP9A Ivone Leong Tag Q4_21_rating was removed from gene: ATP9A.
Intellectual disability v3.1519 ATP1A3 Ivone Leong Tag Q3_21_expert_review was removed from gene: ATP1A3.
Intellectual disability v3.1519 ARFGEF1 Ivone Leong Tag Q4_21_rating was removed from gene: ARFGEF1.
Intellectual disability v3.1519 ARF1 Ivone Leong Tag Q3_21_rating was removed from gene: ARF1.
Intellectual disability v3.1519 AP1G1 Ivone Leong Tag Q3_21_rating was removed from gene: AP1G1.
Intellectual disability v3.1519 ANKRD17 Ivone Leong Tag Q2_21_rating was removed from gene: ANKRD17.
Intellectual disability v3.1519 ANK2 Ivone Leong Tag Q3_21_rating was removed from gene: ANK2.
Intellectual disability v3.1519 AGO1 Ivone Leong Tag Q2_21_expert_review was removed from gene: AGO1.
Intellectual disability v3.1519 ABHD16A Ivone Leong Tag Q4_21_rating was removed from gene: ABHD16A.
Intellectual disability v3.1519 POLR3B Ivone Leong Tag Q2_21_MOI was removed from gene: POLR3B.
Intellectual disability v3.1519 PHF6 Ivone Leong Tag Q4_21_MOI was removed from gene: PHF6.
Intellectual disability v3.1519 MED12 Ivone Leong Tag Q3_21_MOI was removed from gene: MED12.
Tag Q3_21_expert_review was removed from gene: MED12.
Intellectual disability v3.1519 HCCS Ivone Leong Tag Q4_21_MOI was removed from gene: HCCS.
Intellectual disability v3.1519 GRIK2 Ivone Leong Tag Q4_21_MOI was removed from gene: GRIK2.
Intellectual disability v3.1519 CLPB Ivone Leong Tag Q4_21_MOI was removed from gene: CLPB.
Intellectual disability v3.1519 ZNF699 Sarah Leigh commented on gene: ZNF699
Intellectual disability v3.1519 YIPF5 Sarah Leigh commented on gene: YIPF5
Intellectual disability v3.1519 WDR4 Sarah Leigh commented on gene: WDR4
Intellectual disability v3.1519 VPS41 Sarah Leigh commented on gene: VPS41
Intellectual disability v3.1519 VPS11 Sarah Leigh commented on gene: VPS11
Intellectual disability v3.1519 UFSP2 Sarah Leigh commented on gene: UFSP2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1519 UBE4A Sarah Leigh commented on gene: UBE4A
Intellectual disability v3.1519 TP73 Sarah Leigh commented on gene: TP73
Intellectual disability v3.1519 TNPO2 Sarah Leigh commented on gene: TNPO2
Intellectual disability v3.1519 TMEM222 Sarah Leigh commented on gene: TMEM222: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1519 TCF7L2 Sarah Leigh commented on gene: TCF7L2
Intellectual disability v3.1519 SYNCRIP Sarah Leigh commented on gene: SYNCRIP
Intellectual disability v3.1519 SPTBN1 Sarah Leigh commented on gene: SPTBN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1519 SPEN Sarah Leigh commented on gene: SPEN
Intellectual disability v3.1519 SNIP1 Sarah Leigh commented on gene: SNIP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1519 SMARCA5 Sarah Leigh commented on gene: SMARCA5
Intellectual disability v3.1519 SIN3B Sarah Leigh commented on gene: SIN3B
Intellectual disability v3.1519 SIAH1 Sarah Leigh commented on gene: SIAH1
Intellectual disability v3.1519 SCYL1 Sarah Leigh commented on gene: SCYL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1519 SATB1 Sarah Leigh commented on gene: SATB1
Intellectual disability v3.1519 RFX7 Sarah Leigh commented on gene: RFX7
Intellectual disability v3.1519 RFX4 Sarah Leigh commented on gene: RFX4
Intellectual disability v3.1519 RFX3 Sarah Leigh commented on gene: RFX3
Intellectual disability v3.1519 PTPN4 Sarah Leigh commented on gene: PTPN4
Intellectual disability v3.1519 PRICKLE2 Sarah Leigh commented on gene: PRICKLE2
Intellectual disability v3.1519 POLR3B Sarah Leigh commented on gene: POLR3B
Intellectual disability v3.1519 PIGC Sarah Leigh commented on gene: PIGC
Intellectual disability v3.1519 PIDD1 Sarah Leigh commented on gene: PIDD1
Intellectual disability v3.1519 PI4KA Sarah Leigh commented on gene: PI4KA
Intellectual disability v3.1519 PHF6 Sarah Leigh commented on gene: PHF6
Intellectual disability v3.1519 PGM2L1 Sarah Leigh commented on gene: PGM2L1
Intellectual disability v3.1519 PCDHGC4 Sarah Leigh commented on gene: PCDHGC4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1519 OTUD5 Sarah Leigh commented on gene: OTUD5
Intellectual disability v3.1519 NEUROD2 Sarah Leigh commented on gene: NEUROD2
Intellectual disability v3.1519 NCKAP1 Sarah Leigh commented on gene: NCKAP1
Intellectual disability v3.1519 NCDN Sarah Leigh commented on gene: NCDN
Intellectual disability v3.1519 MINPP1 Sarah Leigh commented on gene: MINPP1
Intellectual disability v3.1519 MED27 Sarah Leigh commented on gene: MED27
Intellectual disability v3.1519 MED12 Sarah Leigh commented on gene: MED12
Intellectual disability v3.1519 MAP1B Sarah Leigh commented on gene: MAP1B
Intellectual disability v3.1519 LINGO4 Sarah Leigh commented on gene: LINGO4
Intellectual disability v3.1519 KDM3B Sarah Leigh commented on gene: KDM3B
Intellectual disability v3.1519 KCNN2 Sarah Leigh commented on gene: KCNN2
Intellectual disability v3.1519 KCND2 Sarah Leigh commented on gene: KCND2
Intellectual disability v3.1519 IMPDH2 Sarah Leigh commented on gene: IMPDH2
Intellectual disability v3.1519 HPDL Sarah Leigh commented on gene: HPDL
Intellectual disability v3.1519 HNMT Sarah Leigh commented on gene: HNMT
Intellectual disability v3.1519 HIST1H4C Sarah Leigh commented on gene: HIST1H4C
Intellectual disability v3.1519 HID1 Sarah Leigh commented on gene: HID1
Intellectual disability v3.1519 HCCS Sarah Leigh commented on gene: HCCS
Intellectual disability v3.1519 GTF2E2 Sarah Leigh commented on gene: GTF2E2
Intellectual disability v3.1519 GRIK2 Sarah Leigh commented on gene: GRIK2
Intellectual disability v3.1519 GNB2 Sarah Leigh commented on gene: GNB2
Intellectual disability v3.1519 GEMIN5 Sarah Leigh commented on gene: GEMIN5
Intellectual disability v3.1519 GABRD Sarah Leigh commented on gene: GABRD
Intellectual disability v3.1519 FBXO31 Sarah Leigh commented on gene: FBXO31
Intellectual disability v3.1519 FARSA Sarah Leigh commented on gene: FARSA
Intellectual disability v3.1519 ERBB4 Sarah Leigh commented on gene: ERBB4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1519 EMC10 Sarah Leigh commented on gene: EMC10
Intellectual disability v3.1519 EIF5A Sarah Leigh commented on gene: EIF5A
Intellectual disability v3.1519 DPYSL5 Sarah Leigh commented on gene: DPYSL5
Intellectual disability v3.1519 DPYS Sarah Leigh commented on gene: DPYS
Intellectual disability v3.1519 DPM2 Sarah Leigh commented on gene: DPM2
Intellectual disability v3.1519 DDB1 Sarah Leigh commented on gene: DDB1
Intellectual disability v3.1519 CTC1 Sarah Leigh commented on gene: CTC1
Intellectual disability v3.1519 CPE Sarah Leigh commented on gene: CPE
Intellectual disability v3.1519 COPB2 Sarah Leigh commented on gene: COPB2
Intellectual disability v3.1519 CLPB Sarah Leigh commented on gene: CLPB
Intellectual disability v3.1519 CLCN3 Sarah Leigh commented on gene: CLCN3
Intellectual disability v3.1519 CHD5 Sarah Leigh commented on gene: CHD5
Intellectual disability v3.1519 CEP85L Sarah Leigh commented on gene: CEP85L: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1519 CDH15 Sarah Leigh commented on gene: CDH15
Intellectual disability v3.1519 CAPN15 Sarah Leigh commented on gene: CAPN15
Intellectual disability v3.1519 CAMK4 Sarah Leigh commented on gene: CAMK4
Intellectual disability v3.1519 CACNA1I Sarah Leigh commented on gene: CACNA1I
Intellectual disability v3.1519 BCAS3 Sarah Leigh commented on gene: BCAS3
Intellectual disability v3.1519 ATP9A Sarah Leigh commented on gene: ATP9A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1519 ATP1A3 Sarah Leigh commented on gene: ATP1A3
Intellectual disability v3.1519 ARFGEF1 Sarah Leigh commented on gene: ARFGEF1
Intellectual disability v3.1519 ARF1 Sarah Leigh commented on gene: ARF1
Intellectual disability v3.1519 AP1G1 Sarah Leigh commented on gene: AP1G1
Intellectual disability v3.1519 ANKRD17 Sarah Leigh commented on gene: ANKRD17
Intellectual disability v3.1519 ANK2 Sarah Leigh commented on gene: ANK2
Intellectual disability v3.1519 AGO1 Sarah Leigh commented on gene: AGO1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1519 AFG3L2 Sarah Leigh commented on gene: AFG3L2: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1519 ABHD16A Sarah Leigh commented on gene: ABHD16A
Intellectual disability v3.1519 ZNF699 Ivone Leong Source Expert Review Green was added to ZNF699.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 YIPF5 Ivone Leong Source Expert Review Green was added to YIPF5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 WDR4 Ivone Leong Source Expert Review Green was added to WDR4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 VPS41 Ivone Leong Source Expert Review Green was added to VPS41.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 VPS11 Ivone Leong Source Expert Review Green was added to VPS11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 UFSP2 Ivone Leong Source Expert Review Green was added to UFSP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 UBE4A Ivone Leong Source Expert Review Green was added to UBE4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 TP73 Ivone Leong Source Expert Review Green was added to TP73.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 TNPO2 Ivone Leong Source Expert Review Green was added to TNPO2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 TMEM222 Ivone Leong Source Expert Review Green was added to TMEM222.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 TCF7L2 Ivone Leong Source Expert Review Green was added to TCF7L2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 SYNCRIP Ivone Leong Source Expert Review Green was added to SYNCRIP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 SPTBN1 Ivone Leong Source Expert Review Green was added to SPTBN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 SPEN Ivone Leong Source Expert Review Green was added to SPEN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 SNIP1 Ivone Leong Source Expert Review Green was added to SNIP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 SMARCA5 Ivone Leong Source Expert Review Green was added to SMARCA5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 SIN3B Ivone Leong Source Expert Review Green was added to SIN3B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 SIAH1 Ivone Leong Source Expert Review Green was added to SIAH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 SCYL1 Ivone Leong Source Expert Review Green was added to SCYL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 SATB1 Ivone Leong Source Expert Review Green was added to SATB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 RFX7 Ivone Leong Source Expert Review Green was added to RFX7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 RFX4 Ivone Leong Source Expert Review Green was added to RFX4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 RFX3 Ivone Leong Source Expert Review Green was added to RFX3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 PTPN4 Ivone Leong Source Expert Review Green was added to PTPN4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 PRICKLE2 Ivone Leong Source Expert Review Green was added to PRICKLE2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 POLR3B Ivone Leong Source NHS GMS was added to POLR3B.
Mode of inheritance for gene POLR3B was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability v3.1519 PIGC Ivone Leong Source Expert Review Green was added to PIGC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 PIDD1 Ivone Leong Source Expert Review Green was added to PIDD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 PI4KA Ivone Leong Source Expert Review Green was added to PI4KA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 PHF6 Ivone Leong Source NHS GMS was added to PHF6.
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)
Intellectual disability v3.1519 PGM2L1 Ivone Leong Source Expert Review Green was added to PGM2L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 PCDHGC4 Ivone Leong Source Expert Review Green was added to PCDHGC4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 OTUD5 Ivone Leong Source Expert Review Green was added to OTUD5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 NEUROD2 Ivone Leong Source Expert Review Green was added to NEUROD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 NCKAP1 Ivone Leong Source Expert Review Green was added to NCKAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 NCDN Ivone Leong Source Expert Review Green was added to NCDN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 MINPP1 Ivone Leong Source Expert Review Green was added to MINPP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 MED27 Ivone Leong Source Expert Review Green was added to MED27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 MED12 Ivone Leong Source NHS GMS was added to MED12.
Mode of inheritance for gene MED12 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)
Intellectual disability v3.1519 MAP1B Ivone Leong Source Expert Review Green was added to MAP1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 LINGO4 Ivone Leong Source Expert Review Green was added to LINGO4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 KDM3B Ivone Leong Source Expert Review Green was added to KDM3B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 KCNN2 Ivone Leong Source Expert Review Green was added to KCNN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 KCND2 Ivone Leong Source Expert Review Green was added to KCND2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 IMPDH2 Ivone Leong Source Expert Review Green was added to IMPDH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 HPDL Ivone Leong Source Expert Review Green was added to HPDL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 HNMT Ivone Leong Source Expert Review Green was added to HNMT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 HIST1H4C Ivone Leong Source Expert Review Green was added to HIST1H4C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 HID1 Ivone Leong Source Expert Review Green was added to HID1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 HCCS Ivone Leong Source NHS GMS was added to HCCS.
Mode of inheritance for gene HCCS 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)
Intellectual disability v3.1519 GTF2E2 Ivone Leong Source Expert Review Green was added to GTF2E2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 GRIK2 Ivone Leong Source NHS GMS was added to GRIK2.
Mode of inheritance for gene GRIK2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v3.1519 GNB2 Ivone Leong Source Expert Review Green was added to GNB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 GEMIN5 Ivone Leong Source Expert Review Green was added to GEMIN5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 GABRD Ivone Leong Source Expert Review Green was added to GABRD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 FBXO31 Ivone Leong Source Expert Review Green was added to FBXO31.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 FARSA Ivone Leong Source Expert Review Green was added to FARSA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 ERBB4 Ivone Leong Source Expert Review Green was added to ERBB4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 EMC10 Ivone Leong Source Expert Review Green was added to EMC10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 EIF5A Ivone Leong Source Expert Review Green was added to EIF5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 DPYSL5 Ivone Leong Source Expert Review Green was added to DPYSL5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 DPYS Ivone Leong Source Expert Review Green was added to DPYS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 DPM2 Ivone Leong Source Expert Review Green was added to DPM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 DDB1 Ivone Leong Source Expert Review Green was added to DDB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 CTC1 Ivone Leong Source Expert Review Amber was added to CTC1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Intellectual disability v3.1519 CPE Ivone Leong Source Expert Review Green was added to CPE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 COPB2 Ivone Leong Source Expert Review Green was added to COPB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 CLPB Ivone Leong 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
Intellectual disability v3.1519 CLCN3 Ivone Leong Source Expert Review Green was added to CLCN3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 CHD5 Ivone Leong Source Expert Review Green was added to CHD5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 CEP85L Ivone Leong Source Expert Review Green was added to CEP85L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 CDH15 Ivone Leong Source Expert Review Red was added to CDH15.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1519 CAPN15 Ivone Leong Source Expert Review Green was added to CAPN15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 CAMK4 Ivone Leong Source Expert Review Green was added to CAMK4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 CACNA1I Ivone Leong Source Expert Review Green was added to CACNA1I.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 BCAS3 Ivone Leong Source Expert Review Green was added to BCAS3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 ATP9A Ivone Leong Source Expert Review Green was added to ATP9A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 ATP1A3 Ivone Leong Source Expert Review Green was added to ATP1A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 ARFGEF1 Ivone Leong Source Expert Review Green was added to ARFGEF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 ARF1 Ivone Leong Source Expert Review Green was added to ARF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 AP1G1 Ivone Leong Source Expert Review Green was added to AP1G1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 ANKRD17 Ivone Leong Source Expert Review Green was added to ANKRD17.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 ANK2 Ivone Leong Source Expert Review Green was added to ANK2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 AGO1 Ivone Leong Source Expert Review Green was added to AGO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 AFG3L2 Ivone Leong Source NHS GMS was added to AFG3L2.
Intellectual disability v3.1519 ABHD16A Ivone Leong Source Expert Review Green was added to ABHD16A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Lysosomal storage disorder v1.78 VPS16 Ivone Leong Tag Q2_21_rating was removed from gene: VPS16.
Tag Q2_21_MOI was removed from gene: VPS16.
Lysosomal storage disorder v1.78 VPS16 Sarah Leigh commented on gene: VPS16
Lysosomal storage disorder v1.77 VPS16 Ivone Leong Source Expert Review Green was added to VPS16.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Familial chylomicronaemia syndrome (FCS) v1.21 APOB Ivone Leong Tag Q3_21_NHS_review was removed from gene: APOB.
Tag Q3_21_expert_review was removed from gene: APOB.
Familial chylomicronaemia syndrome (FCS) v1.21 APOB Sarah Leigh commented on gene: APOB: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Familial chylomicronaemia syndrome (FCS) v1.20 APOB Ivone Leong Source Expert Review Red was added to APOB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Likely inborn error of metabolism v2.229 TARS2 Ivone Leong Tag Q4_21_rating was removed from gene: TARS2.
Likely inborn error of metabolism v2.229 POMK Ivone Leong Tag Q2_21_rating was removed from gene: POMK.
Likely inborn error of metabolism v2.229 NDUFC2 Ivone Leong Tag Q2_21_rating was removed from gene: NDUFC2.
Likely inborn error of metabolism v2.229 NDUFA12 Ivone Leong Tag Q2_21_rating was removed from gene: NDUFA12.
Likely inborn error of metabolism v2.229 GALNT2 Ivone Leong Tag Q2_21_rating was removed from gene: GALNT2.
Likely inborn error of metabolism v2.229 EOGT Ivone Leong Tag Q2_21_rating was removed from gene: EOGT.
Likely inborn error of metabolism v2.229 EHBP1L1 Ivone Leong Tag Q4_21_rating was removed from gene: EHBP1L1.
Likely inborn error of metabolism v2.229 CSGALNACT1 Ivone Leong Tag Q2_21_rating was removed from gene: CSGALNACT1.
Likely inborn error of metabolism v2.229 B4GALNT1 Ivone Leong Tag Q2_21_rating was removed from gene: B4GALNT1.
Likely inborn error of metabolism v2.229 FAR1 Ivone Leong Tag Q2_21_rating was removed from gene: FAR1.
Likely inborn error of metabolism v2.229 CLPB Ivone Leong Tag Q4_21_MOI was removed from gene: CLPB.
Likely inborn error of metabolism v2.229 NAXD Ivone Leong Tag Q2_21_rating was removed from gene: NAXD.
Likely inborn error of metabolism v2.229 NAXD Sarah Leigh commented on gene: NAXD
Likely inborn error of metabolism v2.229 TARS2 Sarah Leigh commented on gene: TARS2: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Likely inborn error of metabolism v2.229 POMK Sarah Leigh commented on gene: POMK: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Likely inborn error of metabolism v2.229 NDUFC2 Sarah Leigh commented on gene: NDUFC2: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Likely inborn error of metabolism v2.229 NDUFA12 Sarah Leigh commented on gene: NDUFA12: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Likely inborn error of metabolism v2.229 GALNT2 Sarah Leigh commented on gene: GALNT2: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Likely inborn error of metabolism v2.229 FAR1 Sarah Leigh commented on gene: FAR1
Likely inborn error of metabolism v2.229 EOGT Sarah Leigh commented on gene: EOGT: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Likely inborn error of metabolism v2.229 EHBP1L1 Sarah Leigh commented on gene: EHBP1L1: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Likely inborn error of metabolism v2.229 CSGALNACT1 Sarah Leigh commented on gene: CSGALNACT1
Likely inborn error of metabolism v2.229 CLPB Sarah Leigh commented on gene: CLPB
Likely inborn error of metabolism v2.229 B4GALNT1 Sarah Leigh commented on gene: B4GALNT1: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Likely inborn error of metabolism v2.229 NAXD Ivone Leong Source Expert Review Green was added to NAXD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v2.229 TARS2 Ivone Leong Source Expert Review Green was added to TARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v2.229 POMK Ivone Leong Source Expert Review Green was added to POMK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v2.229 NDUFC2 Ivone Leong Source Expert Review Green was added to NDUFC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v2.229 NDUFA12 Ivone Leong Source Expert Review Green was added to NDUFA12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v2.229 GALNT2 Ivone Leong Source Expert Review Green was added to GALNT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v2.229 FAR1 Ivone Leong Source Expert Review Red was added to FAR1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Likely inborn error of metabolism v2.229 EOGT Ivone Leong Source Expert Review Green was added to EOGT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v2.229 EHBP1L1 Ivone Leong Source Expert Review Green was added to EHBP1L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v2.229 CSGALNACT1 Ivone Leong Source Expert Review Green was added to CSGALNACT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v2.229 CLPB Ivone Leong 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
Likely inborn error of metabolism v2.229 B4GALNT1 Ivone Leong Source Expert Review Green was added to B4GALNT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - narrow panel v1.224 FIG4 Ivone Leong Tag Q2_21_rating was removed from gene: FIG4.
White matter disorders and cerebral calcification - narrow panel v1.224 FIG4 Sarah Leigh commented on gene: FIG4
White matter disorders and cerebral calcification - narrow panel v1.224 FIG4 Ivone Leong Source Expert Review Green was added to FIG4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.127 B4GAT1 Ivone Leong Tag Q3_21_rating was removed from gene: B4GAT1.
Hydrocephalus v2.127 EEF2 Ivone Leong Tag Q2_21_rating was removed from gene: EEF2.
Hydrocephalus v2.127 KIDINS220 Ivone Leong Tag deletions was removed from gene: KIDINS220.
Hydrocephalus v2.127 KIDINS220 Ivone Leong Tag Q2_21_rating was removed from gene: KIDINS220.
Tag deletions tag was added to gene: KIDINS220.
Hydrocephalus v2.127 MPDZ Ivone Leong Tag Q2_21_rating was removed from gene: MPDZ.
Hydrocephalus v2.127 SMARCC1 Ivone Leong Tag Q2_21_rating was removed from gene: SMARCC1.
Hydrocephalus v2.127 TBC1D32 Ivone Leong Tag Q4_21_rating was removed from gene: TBC1D32.
Hydrocephalus v2.127 TCIRG1 Ivone Leong Tag Q4_21_rating was removed from gene: TCIRG1.
Hydrocephalus v2.127 TNFRSF11A Ivone Leong Tag Q4_21_rating was removed from gene: TNFRSF11A.
Hydrocephalus v2.127 TRIM71 Ivone Leong Tag Q2_21_rating was removed from gene: TRIM71.
Hydrocephalus v2.127 TRIM71 Sarah Leigh commented on gene: TRIM71
Hydrocephalus v2.127 TNFRSF11A Sarah Leigh commented on gene: TNFRSF11A
Hydrocephalus v2.127 TCIRG1 Sarah Leigh commented on gene: TCIRG1
Hydrocephalus v2.127 TBC1D32 Sarah Leigh commented on gene: TBC1D32
Hydrocephalus v2.127 SMARCC1 Sarah Leigh commented on gene: SMARCC1
Hydrocephalus v2.127 MPDZ Sarah Leigh commented on gene: MPDZ
Hydrocephalus v2.127 KIDINS220 Sarah Leigh commented on gene: KIDINS220
Hydrocephalus v2.127 EEF2 Sarah Leigh commented on gene: EEF2
Hydrocephalus v2.127 B4GAT1 Sarah Leigh commented on gene: B4GAT1
Hydrocephalus v2.126 TRIM71 Ivone Leong Source Expert Review Green was added to TRIM71.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.126 TNFRSF11A Ivone Leong Source Expert Review Green was added to TNFRSF11A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.126 TCIRG1 Ivone Leong Source Expert Review Green was added to TCIRG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.126 TBC1D32 Ivone Leong Source Expert Review Green was added to TBC1D32.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.126 SMARCC1 Ivone Leong Source Expert Review Green was added to SMARCC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.126 MPDZ Ivone Leong Source Expert Review Green was added to MPDZ.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.126 KIDINS220 Ivone Leong Source Expert Review Green was added to KIDINS220.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.126 EEF2 Ivone Leong Source Expert Review Green was added to EEF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.126 B4GAT1 Ivone Leong Source Expert Review Green was added to B4GAT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Holoprosencephaly - NOT chromosomal v2.27 KMT2D Ivone Leong Tag Q3_21_rating was removed from gene: KMT2D.
Holoprosencephaly - NOT chromosomal v2.27 RAD21 Ivone Leong Tag Q3_21_rating was removed from gene: RAD21.
Holoprosencephaly - NOT chromosomal v2.27 RAD21 Sarah Leigh commented on gene: RAD21
Holoprosencephaly - NOT chromosomal v2.27 KMT2D Sarah Leigh commented on gene: KMT2D
Holoprosencephaly - NOT chromosomal v2.26 RAD21 Ivone Leong Source Expert Review Green was added to RAD21.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Holoprosencephaly - NOT chromosomal v2.26 KMT2D Ivone Leong Source Expert Review Green was added to KMT2D.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.130 SLC25A15 Ivone Leong Tag Q3_21_rating was removed from gene: SLC25A15.
Childhood onset hereditary spastic paraplegia v2.130 RNASEH2B Ivone Leong Tag Q4_21_rating was removed from gene: RNASEH2B.
Childhood onset hereditary spastic paraplegia v2.130 MAPK8IP3 Ivone Leong Tag Q4_21_rating was removed from gene: MAPK8IP3.
Childhood onset hereditary spastic paraplegia v2.130 IFIH1 Ivone Leong Tag Q4_21_rating was removed from gene: IFIH1.
Childhood onset hereditary spastic paraplegia v2.130 HPDL Ivone Leong Tag Q2_21_rating was removed from gene: HPDL.
Tag Q2_21_NHS_review was removed from gene: HPDL.
Childhood onset hereditary spastic paraplegia v2.130 HIKESHI Ivone Leong Tag Q2_21_rating was removed from gene: HIKESHI.
Childhood onset hereditary spastic paraplegia v2.130 GPT2 Ivone Leong Tag Q4_21_rating was removed from gene: GPT2.
Childhood onset hereditary spastic paraplegia v2.130 GLRX5 Ivone Leong Tag Q2_21_rating was removed from gene: GLRX5.
Childhood onset hereditary spastic paraplegia v2.130 GJA1 Ivone Leong Tag Q3_21_rating was removed from gene: GJA1.
Childhood onset hereditary spastic paraplegia v2.130 GALC Ivone Leong Tag Q3_21_rating was removed from gene: GALC.
Childhood onset hereditary spastic paraplegia v2.130 FAR1 Ivone Leong Tag Q2_21_rating was removed from gene: FAR1.
Childhood onset hereditary spastic paraplegia v2.130 ELOVL1 Ivone Leong Tag Q4_21_rating was removed from gene: ELOVL1.
Childhood onset hereditary spastic paraplegia v2.130 BCAS3 Ivone Leong Tag Q2_21_rating was removed from gene: BCAS3.
Childhood onset hereditary spastic paraplegia v2.130 ARL6IP1 Ivone Leong Tag Q2_21_rating was removed from gene: ARL6IP1.
Childhood onset hereditary spastic paraplegia v2.130 ALDH3A2 Ivone Leong Tag Q3_21_rating was removed from gene: ALDH3A2.
Childhood onset hereditary spastic paraplegia v2.130 AFG3L2 Ivone Leong Tag Q2_21_MOI was removed from gene: AFG3L2.
Childhood onset hereditary spastic paraplegia v2.130 SLC25A15 Sarah Leigh commented on gene: SLC25A15
Childhood onset hereditary spastic paraplegia v2.130 RNASEH2B Sarah Leigh commented on gene: RNASEH2B
Childhood onset hereditary spastic paraplegia v2.130 MAPK8IP3 Sarah Leigh commented on gene: MAPK8IP3
Childhood onset hereditary spastic paraplegia v2.130 IFIH1 Sarah Leigh commented on gene: IFIH1
Childhood onset hereditary spastic paraplegia v2.130 HPDL Sarah Leigh commented on gene: HPDL: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Childhood onset hereditary spastic paraplegia v2.130 HPDL Sarah Leigh commented on gene: HPDL: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Childhood onset hereditary spastic paraplegia v2.130 HPDL Sarah Leigh commented on gene: HPDL
Childhood onset hereditary spastic paraplegia v2.130 HIKESHI Sarah Leigh commented on gene: HIKESHI
Childhood onset hereditary spastic paraplegia v2.130 GPT2 Sarah Leigh commented on gene: GPT2
Childhood onset hereditary spastic paraplegia v2.130 GLRX5 Sarah Leigh commented on gene: GLRX5
Childhood onset hereditary spastic paraplegia v2.130 GJA1 Sarah Leigh commented on gene: GJA1
Childhood onset hereditary spastic paraplegia v2.130 GALC Sarah Leigh commented on gene: GALC
Childhood onset hereditary spastic paraplegia v2.130 FAR1 Sarah Leigh commented on gene: FAR1
Childhood onset hereditary spastic paraplegia v2.130 ELOVL1 Sarah Leigh commented on gene: ELOVL1
Childhood onset hereditary spastic paraplegia v2.130 BCAS3 Sarah Leigh commented on gene: BCAS3
Childhood onset hereditary spastic paraplegia v2.130 ARL6IP1 Sarah Leigh commented on gene: ARL6IP1
Childhood onset hereditary spastic paraplegia v2.130 ALDH3A2 Sarah Leigh commented on gene: ALDH3A2
Childhood onset hereditary spastic paraplegia v2.130 AFG3L2 Sarah Leigh commented on gene: AFG3L2: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v2.129 SLC25A15 Ivone Leong Source Expert Review Green was added to SLC25A15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 RNASEH2B Ivone Leong Source Expert Review Green was added to RNASEH2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 MAPK8IP3 Ivone Leong Source Expert Review Green was added to MAPK8IP3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 IFIH1 Ivone Leong Source Expert Review Green was added to IFIH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 HPDL Ivone Leong Source Expert Review Green was added to HPDL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 HIKESHI Ivone Leong Source Expert Review Green was added to HIKESHI.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 GPT2 Ivone Leong Source Expert Review Green was added to GPT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 GLRX5 Ivone Leong Source Expert Review Green was added to GLRX5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 GJA1 Ivone Leong Source Expert Review Green was added to GJA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 GALC Ivone Leong Source Expert Review Green was added to GALC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 FAR1 Ivone Leong Source Expert Review Green was added to FAR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 ELOVL1 Ivone Leong Source Expert Review Green was added to ELOVL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 BCAS3 Ivone Leong Source Expert Review Green was added to BCAS3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 ARL6IP1 Ivone Leong Source Expert Review Green was added to ARL6IP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 ALDH3A2 Ivone Leong Source Expert Review Green was added to ALDH3A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 AFG3L2 Ivone Leong Mode of inheritance for gene AFG3L2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v1.95 WDR45B Ivone Leong Tag Q3_21_phenotype was removed from gene: WDR45B.
Adult onset hereditary spastic paraplegia v1.95 UCHL1 Ivone Leong Tag Q2_21_expert_review was removed from gene: UCHL1.
Adult onset hereditary spastic paraplegia v1.95 TFG Ivone Leong Tag Q3_21_phenotype was removed from gene: TFG.
Adult onset hereditary spastic paraplegia v1.95 SPART Ivone Leong Tag Q3_21_phenotype was removed from gene: SPART.
Adult onset hereditary spastic paraplegia v1.95 SLC1A4 Ivone Leong Tag Q2_21_phenotype was removed from gene: SLC1A4.
Adult onset hereditary spastic paraplegia v1.95 SLC16A2 Ivone Leong Tag Q3_21_phenotype was removed from gene: SLC16A2.
Adult onset hereditary spastic paraplegia v1.95 SERAC1 Ivone Leong Tag Q3_21_phenotype was removed from gene: SERAC1.
Adult onset hereditary spastic paraplegia v1.95 REEP2 Ivone Leong Tag Q3_21_phenotype was removed from gene: REEP2.
Adult onset hereditary spastic paraplegia v1.95 NT5C2 Ivone Leong Tag Q3_21_phenotype was removed from gene: NT5C2.
Adult onset hereditary spastic paraplegia v1.95 NKX6-2 Ivone Leong Tag Q3_21_phenotype was removed from gene: NKX6-2.
Adult onset hereditary spastic paraplegia v1.95 L1CAM Ivone Leong Tag Q3_21_phenotype was removed from gene: L1CAM.
Adult onset hereditary spastic paraplegia v1.95 KIDINS220 Ivone Leong Tag Q3_21_phenotype was removed from gene: KIDINS220.
Adult onset hereditary spastic paraplegia v1.95 KDM5C Ivone Leong Tag Q3_21_expert_review was removed from gene: KDM5C.
Tag Q3_21_phenotype was removed from gene: KDM5C.
Adult onset hereditary spastic paraplegia v1.95 HACE1 Ivone Leong Tag Q3_21_phenotype was removed from gene: HACE1.
Adult onset hereditary spastic paraplegia v1.95 SLC25A15 Ivone Leong Tag Q3_21_rating was removed from gene: SLC25A15.
Adult onset hereditary spastic paraplegia v1.95 GJA1 Ivone Leong Tag Q3_21_rating was removed from gene: GJA1.
Adult onset hereditary spastic paraplegia v1.95 GBE1 Ivone Leong Tag Q3_21_rating was removed from gene: GBE1.
Adult onset hereditary spastic paraplegia v1.95 GALC Ivone Leong Tag Q3_21_rating was removed from gene: GALC.
Adult onset hereditary spastic paraplegia v1.95 FBXO7 Ivone Leong Tag Q3_21_rating was removed from gene: FBXO7.
Adult onset hereditary spastic paraplegia v1.95 FARS2 Ivone Leong Tag Q3_21_phenotype was removed from gene: FARS2.
Adult onset hereditary spastic paraplegia v1.95 ERLIN1 Ivone Leong Tag Q3_21_phenotype was removed from gene: ERLIN1.
Adult onset hereditary spastic paraplegia v1.95 ENTPD1 Ivone Leong Tag Q3_21_phenotype was removed from gene: ENTPD1.
Adult onset hereditary spastic paraplegia v1.95 CYP2U1 Ivone Leong Tag Q2_21_expert_review was removed from gene: CYP2U1.
Adult onset hereditary spastic paraplegia v1.95 CPT1C Ivone Leong Tag Q4_21_rating was removed from gene: CPT1C.
Adult onset hereditary spastic paraplegia v1.95 C12orf65 Ivone Leong Tag Q3_21_expert_review was removed from gene: C12orf65.
Tag Q3_21_phenotype was removed from gene: C12orf65.
Adult onset hereditary spastic paraplegia v1.95 ARG1 Ivone Leong Tag Q3_21_phenotype was removed from gene: ARG1.
Adult onset hereditary spastic paraplegia v1.95 ALS2 Ivone Leong Tag Q3_21_expert_review was removed from gene: ALS2.
Tag Q3_21_phenotype was removed from gene: ALS2.
Adult onset hereditary spastic paraplegia v1.95 AIMP1 Ivone Leong Tag Q3_21_phenotype was removed from gene: AIMP1.
Adult onset hereditary spastic paraplegia v1.95 AFG3L2 Ivone Leong Tag Q2_21_phenotype was removed from gene: AFG3L2.
Tag Q2_21_MOI was removed from gene: AFG3L2.
Adult onset hereditary spastic paraplegia v1.95 WDR45B Sarah Leigh commented on gene: WDR45B
Adult onset hereditary spastic paraplegia v1.95 UCHL1 Sarah Leigh commented on gene: UCHL1
Adult onset hereditary spastic paraplegia v1.95 TFG Sarah Leigh commented on gene: TFG
Adult onset hereditary spastic paraplegia v1.95 SPART Sarah Leigh commented on gene: SPART
Adult onset hereditary spastic paraplegia v1.95 SLC25A15 Sarah Leigh commented on gene: SLC25A15
Adult onset hereditary spastic paraplegia v1.95 SLC1A4 Sarah Leigh commented on gene: SLC1A4
Adult onset hereditary spastic paraplegia v1.95 SLC16A2 Sarah Leigh commented on gene: SLC16A2
Adult onset hereditary spastic paraplegia v1.95 SERAC1 Sarah Leigh commented on gene: SERAC1
Adult onset hereditary spastic paraplegia v1.95 REEP2 Sarah Leigh commented on gene: REEP2
Adult onset hereditary spastic paraplegia v1.95 NT5C2 Sarah Leigh commented on gene: NT5C2
Adult onset hereditary spastic paraplegia v1.95 NKX6-2 Sarah Leigh commented on gene: NKX6-2
Adult onset hereditary spastic paraplegia v1.95 L1CAM Sarah Leigh commented on gene: L1CAM
Adult onset hereditary spastic paraplegia v1.95 KIDINS220 Sarah Leigh commented on gene: KIDINS220
Adult onset hereditary spastic paraplegia v1.95 KDM5C Sarah Leigh commented on gene: KDM5C
Adult onset hereditary spastic paraplegia v1.95 HACE1 Sarah Leigh commented on gene: HACE1
Adult onset hereditary spastic paraplegia v1.95 GJA1 Sarah Leigh commented on gene: GJA1
Adult onset hereditary spastic paraplegia v1.95 GBE1 Sarah Leigh commented on gene: GBE1
Adult onset hereditary spastic paraplegia v1.95 GALC Sarah Leigh commented on gene: GALC
Adult onset hereditary spastic paraplegia v1.95 FBXO7 Sarah Leigh commented on gene: FBXO7
Adult onset hereditary spastic paraplegia v1.95 FARS2 Sarah Leigh commented on gene: FARS2
Adult onset hereditary spastic paraplegia v1.95 ERLIN1 Sarah Leigh commented on gene: ERLIN1
Adult onset hereditary spastic paraplegia v1.95 ENTPD1 Sarah Leigh commented on gene: ENTPD1
Adult onset hereditary spastic paraplegia v1.95 CYP2U1 Sarah Leigh commented on gene: CYP2U1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Adult onset hereditary spastic paraplegia v1.95 CPT1C Sarah Leigh commented on gene: CPT1C
Adult onset hereditary spastic paraplegia v1.95 C12orf65 Sarah Leigh commented on gene: C12orf65
Adult onset hereditary spastic paraplegia v1.95 ARG1 Sarah Leigh commented on gene: ARG1
Adult onset hereditary spastic paraplegia v1.95 ALS2 Sarah Leigh commented on gene: ALS2
Adult onset hereditary spastic paraplegia v1.95 AIMP1 Sarah Leigh commented on gene: AIMP1
Adult onset hereditary spastic paraplegia v1.95 AFG3L2 Sarah Leigh commented on gene: AFG3L2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Adult onset hereditary spastic paraplegia v1.94 WDR45B Ivone Leong Source Expert Review Amber was added to WDR45B.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.94 UCHL1 Ivone Leong Source Expert Review Amber was added to UCHL1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.94 TFG Ivone Leong Source Expert Review Amber was added to TFG.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.94 SPART Ivone Leong Source Expert Review Amber was added to SPART.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.94 SLC25A15 Ivone Leong Source Expert Review Green was added to SLC25A15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v1.94 SLC1A4 Ivone Leong Source Expert Review Amber was added to SLC1A4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.94 SLC16A2 Ivone Leong Source Expert Review Amber was added to SLC16A2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.94 SERAC1 Ivone Leong Source Expert Review Amber was added to SERAC1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.94 REEP2 Ivone Leong Source Expert Review Amber was added to REEP2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.94 NT5C2 Ivone Leong Source Expert Review Amber was added to NT5C2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.94 NKX6-2 Ivone Leong Source Expert Review Amber was added to NKX6-2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.94 L1CAM Ivone Leong Source Expert Review Amber was added to L1CAM.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.94 KIDINS220 Ivone Leong Source Expert Review Amber was added to KIDINS220.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.94 KDM5C Ivone Leong Source Expert Review Amber was added to KDM5C.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.94 HACE1 Ivone Leong Source Expert Review Amber was added to HACE1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.94 GJA1 Ivone Leong Source Expert Review Green was added to GJA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v1.94 GBE1 Ivone Leong Source Expert Review Green was added to GBE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v1.94 GALC Ivone Leong Source Expert Review Green was added to GALC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v1.94 FBXO7 Ivone Leong Source Expert Review Green was added to FBXO7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v1.94 FARS2 Ivone Leong Source Expert Review Amber was added to FARS2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.94 ERLIN1 Ivone Leong Source Expert Review Amber was added to ERLIN1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.94 ENTPD1 Ivone Leong Source Expert Review Amber was added to ENTPD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.94 CYP2U1 Ivone Leong Source Expert Review Amber was added to CYP2U1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.94 CPT1C Ivone Leong Source Expert Review Green was added to CPT1C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v1.94 C12orf65 Ivone Leong Source Expert Review Amber was added to C12orf65.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.94 ARG1 Ivone Leong Source Expert Review Amber was added to ARG1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.94 ALS2 Ivone Leong Source Expert Review Amber was added to ALS2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.94 AIMP1 Ivone Leong Source Expert Review Amber was added to AIMP1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.94 AFG3L2 Ivone Leong Source Expert Review Amber was added to AFG3L2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v1.88 VWA1 Ivone Leong Tag Q3_21_rating was removed from gene: VWA1.
Tag Q3_21_NHS_review was removed from gene: VWA1.
Hereditary neuropathy or pain disorder v1.88 POLR3B Ivone Leong Tag Q2_21_rating was removed from gene: POLR3B.
Hereditary neuropathy or pain disorder v1.88 PIGB Ivone Leong Tag Q3_21_rating was removed from gene: PIGB.
Hereditary neuropathy or pain disorder v1.88 HEXB Ivone Leong Tag Q4_21_rating was removed from gene: HEXB.
Hereditary neuropathy or pain disorder v1.88 HEXA Ivone Leong Tag Q4_21_rating was removed from gene: HEXA.
Hereditary neuropathy or pain disorder v1.88 MME Ivone Leong Tag Q4_21_expert_review was removed from gene: MME.
Tag Q4_21_MOI was removed from gene: MME.
Tag Q4_21_NHS_review was removed from gene: MME.
Hereditary neuropathy or pain disorder v1.88 GSN Ivone Leong Tag Q3_21_rating was removed from gene: GSN.
Hereditary neuropathy or pain disorder v1.88 C1orf194 Ivone Leong Tag Q3_21_rating was removed from gene: C1orf194.
Tag Q3_21_NHS_review was removed from gene: C1orf194.
Hereditary neuropathy or pain disorder v1.88 VWA1 Sarah Leigh commented on gene: VWA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary neuropathy or pain disorder v1.88 POLR3B Sarah Leigh commented on gene: POLR3B
Hereditary neuropathy or pain disorder v1.88 PIGB Sarah Leigh commented on gene: PIGB
Hereditary neuropathy or pain disorder v1.88 MME Sarah Leigh commented on gene: MME
Hereditary neuropathy or pain disorder v1.88 HEXB Sarah Leigh commented on gene: HEXB
Hereditary neuropathy or pain disorder v1.88 HEXA Sarah Leigh commented on gene: HEXA
Hereditary neuropathy or pain disorder v1.88 GSN Sarah Leigh commented on gene: GSN
Hereditary neuropathy or pain disorder v1.88 C1orf194 Sarah Leigh commented on gene: C1orf194: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary neuropathy or pain disorder v1.87 VWA1 Ivone Leong Source Expert Review Green was added to VWA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v1.87 POLR3B Ivone Leong Source Expert Review Green was added to POLR3B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v1.87 PIGB Ivone Leong Source Expert Review Green was added to PIGB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v1.87 MME Ivone Leong Mode of inheritance for gene MME was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v1.87 HEXB Ivone Leong Source Expert Review Green was added to HEXB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v1.87 HEXA Ivone Leong Source Expert Review Green was added to HEXA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v1.87 GSN Ivone Leong Source Expert Review Green was added to GSN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v1.87 C1orf194 Ivone Leong Source Expert Review Green was added to C1orf194.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v1.217 VPS41 Sarah Leigh commented on gene: VPS41: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v1.217 VPS16 Sarah Leigh commented on gene: VPS16: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v1.217 UBTF Sarah Leigh commented on gene: UBTF: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v1.217 TARS2 Sarah Leigh commented on gene: TARS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v1.217 SLC16A2 Sarah Leigh commented on gene: SLC16A2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v1.217 SCN1A Sarah Leigh commented on gene: SCN1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v1.217 MED27 Sarah Leigh commented on gene: MED27: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v1.217 IRF2BPL Sarah Leigh commented on gene: IRF2BPL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v1.217 IMPDH2 Sarah Leigh commented on gene: IMPDH2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v1.217 HPRT1 Sarah Leigh commented on gene: HPRT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v1.217 GRIN1 Sarah Leigh commented on gene: GRIN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v1.217 GNB1 Sarah Leigh commented on gene: GNB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v1.217 GLRB Sarah Leigh commented on gene: GLRB: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v1.217 FUCA1 Sarah Leigh commented on gene: FUCA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v1.217 FOXG1 Sarah Leigh commented on gene: FOXG1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v1.217 FITM2 Sarah Leigh commented on gene: FITM2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v1.217 DHDDS Sarah Leigh commented on gene: DHDDS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v1.217 CSTB Sarah Leigh commented on gene: CSTB: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v1.217 CLPB Sarah Leigh commented on gene: CLPB: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v1.217 CAMK4 Sarah Leigh commented on gene: CAMK4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v1.217 C9orf72 Sarah Leigh commented on gene: C9orf72: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v1.217 ALDH18A1 Sarah Leigh commented on gene: ALDH18A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Dilated Cardiomyopathy and conduction defects v1.75 LDB3 Matthew Edwards reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 4662268, PMID: 14660611, PMID: 16427346; Phenotypes: Cardiomyopathy, dilated, 1C, with or without LVNC (OMIM #601493); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v2.498 CPSF3 Konstantinos Varvagiannis gene: CPSF3 was added
gene: CPSF3 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: CPSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPSF3 were set to 35121750
Phenotypes for gene: CPSF3 were set to Failure to thrive; Abnormal muscle tone; Global developmental delay; Intellectual disability; Microcephaly; Seizures
Penetrance for gene: CPSF3 were set to Complete
Review for gene: CPSF3 was set to AMBER
Added comment: Arnadottir (2022 - PMID: 35121750) describe the phenotype associated with biallelic CPSF3 pathogenic variants.

Based on WGS of 56,969 Icelanders and imputing the genotype of another 153,054 chip-genotyped Icelanders, the authors identified missense variants with a deficit of homozygous carriers to what would be expected based on AF. (For variants with MAF>0.4%, for which >=3 hmz carriers would be expected by H-W equilibrium, no identified hmz carriers within this cohort/dataset). A total of 114 such missense variants was identified.

5 of these SNVs, among which a CPSF3 one (NM_016207.3:c.1403G>A / p.Gly468Glu), were however observed in a series of 764 individuals investigated with clinical WGS at the National University Hospital.

The CPSF3 variant with a MAF of 0.41% (3 hmz expected but none observed in the population set) was found in homozygosity in 2 closely related individuals, both investigated for FTT, severe DD, ID, microcephaly, seizures but remaining unresolved following WGS with no other candidate variants.

Using genealogical information from the db of deCODE genetics, the authors identified 3 couples from the 153k genotyped Icelanders where both partners were htz carriers for this SNV. These 3 couples had 10 offspring, 4 of whom deceased but with the same phenotypic features as above (hypotonia 4/4, ID 4/4, seizures 3/4, microcephaly 2/4). Paraffin embedded samples of 2 of these children and WG & Sanger sequencing confirmed hmz for Gly468Glu in 2 sibs, without other candidate variants. Samples of the 2 other individuals were N/A.

Through GeneMatcher 2 additional first-cousin patients from Mexico were identified, being hmz for another CPSF3 variant (c.1061T>C/p.Ile354Thr) and having overlapping phenotype of abnormal muscle tone, ID, seizures and microcephaly. There were no other variants in WES analysis.

mRNA studies in WBCs from Gly468Glu htz carriers did not reveal reduced levels and W.Blot of lymphocytes from a hmz individual confirmed expression, overall suggesting that the variant does not affect the protein levels but presumably the function.

CPSF3 encodes cleavage and polyadenylation specificity factor 3, a 684 aa protein, subunit of the cleavage and polyadenylation specificity factor compex. As discussed, cleavage and polyadenylation of the 3' of pre-mRNAs is necessary before transport out of the nucleus with CPSF playing a crucial role in the process of cleavage.

CPSF3 ko mice exhibit embryonic lethality, while in yeast mutations in key residues of the CPSF3 homolog are lethal.

In gnomAD, CPSF3 has a pLI of 0, z-score of 3.61 with no homozygotes for pLoF variants in 141k individuals (or ~57k WGS Icelanders).

The 2 missense variants concern highly conserved residues (GERP ~5.8). Both are hypothesized to affect the ability of the protein to bind other factors involved in pre-mRNA cleavage.

Overall the authors speculate that not only complete loss of CPSF3 would result in drastic phenotypic effects - as in the murine model - but also variants altering its enzymatic function.

There is currently no CPSF3-related phenotype in OMIM, G2P, SysID, The gene is included with green rating in the ID, epilepsy and microcephaly panels in PanelApp Australia.

Consider inclusion probably with amber rating (Highly consistent phenotype, biological function, evidence from animal models. 2 identified variants, authors state that follow-up functional studies are needed). Also consider inclusion in other possibly relevant panels.
Sources: Literature
Intellectual disability v3.1518 CPSF3 Konstantinos Varvagiannis gene: CPSF3 was added
gene: CPSF3 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: CPSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPSF3 were set to 35121750
Phenotypes for gene: CPSF3 were set to Failure to thrive; Abnormal muscle tone; Global developmental delay; Intellectual disability; Microcephaly; Seizures
Penetrance for gene: CPSF3 were set to Complete
Review for gene: CPSF3 was set to AMBER
Added comment: Arnadottir (2022 - PMID: 35121750) describe the phenotype associated with biallelic CPSF3 pathogenic variants.

Based on WGS of 56,969 Icelanders and imputing the genotype of another 153,054 chip-genotyped Icelanders, the authors identified missense variants with a deficit of homozygous carriers to what would be expected based on AF. (For variants with MAF>0.4%, for which >=3 hmz carriers would be expected by H-W equilibrium, no identified hmz carriers within this cohort/dataset). A total of 114 such missense variants was identified.

5 of these SNVs, among which a CPSF3 one (NM_016207.3:c.1403G>A / p.Gly468Glu), were however observed in a series of 764 individuals investigated with clinical WGS at the National University Hospital.

The CPSF3 variant with a MAF of 0.41% (3 hmz expected but none observed in the population set) was found in homozygosity in 2 closely related individuals, both investigated for FTT, severe DD, ID, microcephaly, seizures but remaining unresolved following WGS with no other candidate variants.

Using genealogical information from the db of deCODE genetics, the authors identified 3 couples from the 153k genotyped Icelanders where both partners were htz carriers for this SNV. These 3 couples had 10 offspring, 4 of whom deceased but with the same phenotypic features as above (hypotonia 4/4, ID 4/4, seizures 3/4, microcephaly 2/4). Paraffin embedded samples of 2 of these children and WG & Sanger sequencing confirmed hmz for Gly468Glu in 2 sibs, without other candidate variants. Samples of the 2 other individuals were N/A.

Through GeneMatcher 2 additional first-cousin patients from Mexico were identified, being hmz for another CPSF3 variant (c.1061T>C/p.Ile354Thr) and having overlapping phenotype of abnormal muscle tone, ID, seizures and microcephaly. There were no other variants in WES analysis.

mRNA studies in WBCs from Gly468Glu htz carriers did not reveal reduced levels and W.Blot of lymphocytes from a hmz individual confirmed expression, overall suggesting that the variant does not affect the protein levels but presumably the function.

CPSF3 encodes cleavage and polyadenylation specificity factor 3, a 684 aa protein, subunit of the cleavage and polyadenylation specificity factor compex. As discussed, cleavage and polyadenylation of the 3' of pre-mRNAs is necessary before transport out of the nucleus with CPSF playing a crucial role in the process of cleavage.

CPSF3 ko mice exhibit embryonic lethality, while in yeast mutations in key residues of the CPSF3 homolog are lethal.

In gnomAD, CPSF3 has a pLI of 0, z-score of 3.61 with no homozygotes for pLoF variants in 141k individuals (or ~57k WGS Icelanders).

The 2 missense variants concerned highly conserved residues (GERP ~5.8). Both are hypothesized to affect the ability of the protein to bind other factors involved in pre-mRNA cleavage.

Overall the authors speculate that not only complete loss of CPSF3 would result in drastic phenotypic effects - as in the murine model - but also variants altering its enzymatic function.

There is currently no CPSF3-related phenotype in OMIM, G2P, SysID, The gene is included with green rating in the ID, epilepsy and microcephaly panels in PanelApp Australia.

Consider inclusion probably with amber rating (Highly consistent phenotype, biological function, evidence from animal models. 2 identified variants, authors state that follow-up functional studies are needed). Also consider inclusion in other possibly relevant panels.
Sources: Literature
Intellectual disability v3.1518 NRCAM Konstantinos Varvagiannis gene: NRCAM was added
gene: NRCAM was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: NRCAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRCAM were set to 35108495
Phenotypes for gene: NRCAM were set to Hypotonia; Hypertonia; Spasticity; Global developmental delay; Intellectual disability; Microcephaly; Behavioral abnormality; Neuropathy; Hearing abnormality; Abnormality of the eye; Abnormality of the skeletal system; Scoliosis; Abnormality of the face
Penetrance for gene: NRCAM were set to Complete
Review for gene: NRCAM was set to GREEN
Added comment: Kurolap et al (2022 - PMID: 35108495) describe the phenotype of 10 individuals (from 8 families) with biallelic variants in NRCAM.

Features included tone abnormalities (hypotonia in 4/10, hypertonia/spasticity in 4/10), DD (8/10 - 7 families) and cognitive impairment (in 7/10 - 6 fam), neuropathy (4/10 - incl. 2 sibs without DD/ID). Other phenotypes incl. FTT (2/8), microcephaly (3/6), variable behavioral issues (3/5), abnormalities from the eyes/vision (6/8 - cataract in 2), abnormal hearing (3/7) or skeletal findings (8/9 - incl. scoliosis in 5). Nonspecific facial features were reported in 5/8.

Previous metabolic, genetic (incl. karyotype or CMA, FMR1, testing for Steinert disease or SMA) or other work-up (e.g. muscle biopsy) is reported for several subjects but was normal/non-diagnostic.

All were investigated by WES/WGS which revealed biallelic NRCAM variants. Sanger sequencing was used for confirmation and segregation analyses, with compatible results in several affected/unaffected sibs tested. There were no alternative explanations for the NDD phenotype with the exception of one subject with a mosaic functionally characterized LP KRAS variant suspected to contribute to his phenotype.

NRCAM encodes neuronal cell adhesion molecule (CAM). CAMs are membrane bound proteins with important role in tissue morphogenesis and maintenance. They mediate interactions between neighboring cells or cells and the extracellular matrix. The L1 subgroup of immunoglobulin CAMS - consisting of L1CAM, neurofascin, NRCAM, CHL1 - is the most abundant in the CNS with several critical functions in CNS development, among others in neural cell differentiation, axonal growth and guidance, myelination, synapse formation. Pathogenic L1CAM (XL) and NFASC variants (AR) are associated with NDD.

Different missense (N=7), stopgain/frameshift (N=3), a splice variant (NM_001037132.2:c.2647-2A>G) as well as a deep intronic one (c.230+824G>C / rs575851831). Variants occurred in different domains with a cluster (42%) in the fibronectin III domain.

Missense SNVs were ultrarare or not present in gnomAD, occurred in conserved residues, with several in silico predictions in favor of a deleterious effect. Structural modelling suggested that all substitutions occurred at residues exposed to solvent and possible abrogated interaction with other proteins.

There were no expression studies performed at the mRNA/protein level. The splice variant is predicted to cause ex22 skipping leading to frameshift. The deep intronic variant is predicted to disrupt a site for spl. regulator SC35 and may cause activation of a cryptic acceptor site with inclusion of a cryptic exon.

The zebrafish nrcama gene is the sole ortholog of human NRCAM, with another gene proposed as possible ortholog (nrcamb) mapping upon BLAST analysis to cntn1a. The authors performed CRISPR-Cas9 mutagenesis in zebrafish introducing a partial deletion of ex18 and 19. Mutant zebrafish were viable, displayed altered axonal projections and abnormal swimming behavior (increased movement in darkness).

Currently, there is no NRCAM-associated phenotype in OMIM/G2P/SysID. PanelApp Australia includes NRCAM in its ID panel with green rating.

Consider inclusion probably with green (>3 individuals/families/variants, segregation, gene in the L1-Ig CAM family causing NDD, zebrafish model) or amber rating (ID not a universal feature, variant effect not studied).
Sources: Literature
Early onset or syndromic epilepsy v2.498 TIAM1 Konstantinos Varvagiannis gene: TIAM1 was added
gene: TIAM1 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: TIAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIAM1 were set to 35240055; 33328293
Phenotypes for gene: TIAM1 were set to Delayed speech and language development; Global developmental delay; Intellectual disability; Seizures; Behavioral abnormality; Abnormality of the endocrine system; Hypothyroidism; Abnormality of nervous system morphology
Penetrance for gene: TIAM1 were set to Complete
Review for gene: TIAM1 was set to AMBER
Added comment: Lu et al (2022 - PMID: 35240055) describe 5 individuals (from 4 families) with biallelic TIAM1 missense variants.

The phenotype overall corresponded to a neurodevelopmental disorder with DD (5/5), ID (4/4 individuals of relevant age - 3 families), speech delay (5/5), seizures (5/5 - onset: 2m-13y) and behavioral abnormalities (2/2, sibs with autism and ADHD). Several subjects had endocrine symptoms, namely hypothyroidism (N=3 - 2 families), Addison's disease (1) or hypomagnesemia (1). Non-consistent abnormalities were reported in (3/3) subjects who had a brain MRI.

Previous investigations were mentioned for 3 individuals (incl. 2 sibs) and included normal CMA and/or metabolic workup.

Singleton or trio exome sequencing (in one family) revealed biallelic missense TIAM1 variants.

6 different missense variants were reported, all ultra-rare or not present in gnomAD (also o/e:0.2, pLI:0.96), with CADD scores in favor of deleterious effect (NM_001353694.2): c.67C>T/p.Arg23Cys*, c.2584C>T/p.Leu862Phe*, c.983G>T/p.Gly328Val*, c.4640C>A/p.Ala1547Glu, c.1144G>C/p.Gly382Arg, c.4016C>T/p.Ala1339Val.

TIAM1 encodes a RAC1-specific guanine exchange factor (GEF), regulating RAC1 signaling pathways that in turn affect cell shape, migration, adhesion, growth, survival, and polarity, and influence actin cytoskeletal organization, endocytosis, and membrane trafficking. RAC1 signaling plays important role in control of neuronal morphogenesis and neurite outgrowth (based on the summary by Entrez and authors).

TIAM1 is highly expressed in human brain (GTEx).

The authors provide evidence that sif, the Drosophila ortholog, is expressed primarily in neurons of the fly CNS (but not in glia). Using different sif LoF mutant flies they demonstrate that loss of sif impairs viability. Surviving flies exhibited climbing defects and seizure-like behaviors, both significantly rescued upon UAS-sif expression. Neuronal specific sif knockdown resulted in similar phenotypes to ubiquitous knockdown, while glial knockdown did not result in climbing defects.

The semi-lethal phenotype could be fully rescued by expression of the fly sif cDNA, but only partially by human TIAM1 cDNA reference. Upon expression, 3 patient-variants (R23C, L862F, G328V) had variable rescue abilities similar to or lower (R23C) than TIAM1 Ref. TIAM1 Ref and variants could not rescue the neurological phenotypes though. Higher/ectopic expression of sif or TIAM1 Ref was toxic, which was also observed to a lesser extent for variants.

Overall, the evidence provided suggests that the 3 variants tested induce partial LoF.

In a recent study cited (PMID: 33328293), Tiam1 KO mice had simplified dendritic arbors, reduced spine density and diminished excitatory transmission in dentate gyrus. The authors comment that this mouse model presented only subtle behavioral abnormalities which they speculate may be secondary to GEF redundancy (eg. Tiam2).

There is no TIAM1-associated phenotype in OMIM/G2P/SysID. TIAM1 is included in PanelApp Australia in the ID and epilepsy panels with green rating.

Consider inclusion in the current panel with amber rating [As authors discuss: some phenotypic features differed in their small cohort and the contribution of other recessive conditions in 2 consanguineous families cannot be excluded. Also: in fig S1 only status of parents but not of affected/unaffected sibs is specified with the exception of Fam1].
Sources: Literature
Intellectual disability v3.1518 TIAM1 Konstantinos Varvagiannis gene: TIAM1 was added
gene: TIAM1 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: TIAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIAM1 were set to 35240055; 33328293
Phenotypes for gene: TIAM1 were set to Delayed speech and language development; Global developmental delay; Intellectual disability; Seizures; Behavioral abnormality; Abnormality of the endocrine system; Hypothyroidism; Abnormality of nervous system morphology
Penetrance for gene: TIAM1 were set to Complete
Review for gene: TIAM1 was set to AMBER
Added comment: Lu et al (2022 - PMID: 35240055) describe 5 individuals (from 4 families) with biallelic TIAM1 missense variants.

The phenotype overall corresponded to a neurodevelopmental disorder with DD (5/5), ID (4/4 individuals of relevant age - 3 families), speech delay (5/5), seizures (5/5 - onset: 2m-13y) and behavioral abnormalities (2/2, sibs with autism and ADHD). Several subjects had endocrine symptoms, namely hypothyroidism (N=3 - 2 families), Addison's disease (1) or hypomagnesemia (1). Non-consistent abnormalities were reported in (3/3) subjects who had a brain MRI.

Previous investigations were mentioned for 3 individuals (incl. 2 sibs) and included normal CMA and/or metabolic workup.

Singleton or trio exome sequencing (in one family) revealed biallelic missense TIAM1 variants.

6 different missense variants were reported, all ultra-rare or not present in gnomAD (also o/e:0.2, pLI:0.96), with CADD scores in favor of deleterious effect (NM_001353694.2): c.67C>T/p.Arg23Cys*, c.2584C>T/p.Leu862Phe*, c.983G>T/p.Gly328Val*, c.4640C>A/p.Ala1547Glu, c.1144G>C/p.Gly382Arg, c.4016C>T/p.Ala1339Val.

TIAM1 encodes a RAC1-specific guanine exchange factor (GEF), regulating RAC1 signaling pathways that in turn affect cell shape, migration, adhesion, growth, survival, and polarity, and influence actin cytoskeletal organization, endocytosis, and membrane trafficking. RAC1 signaling plays important role in control of neuronal morphogenesis and neurite outgrowth (based on the summary by Entrez and authors).

TIAM1 is highly expressed in human brain (GTEx).

The authors provide evidence that sif, the Drosophila ortholog, is expressed primarily in neurons of the fly CNS (but not in glia). Using different sif LoF mutant flies they demonstrate that loss of sif impairs viability. Surviving flies exhibited climbing defects and seizure-like behaviors, both significantly rescued upon UAS-sif expression. Neuronal specific sif knockdown resulted in similar phenotypes to ubiquitous knockdown, while glial knockdown did not result in climbing defects.

The semi-lethal phenotype could be fully rescued by expression of the fly sif cDNA, but only partially by human TIAM1 cDNA reference. Upon expression, 3 patient-variants (R23C, L862F, G328V) had variable rescue abilities similar to or lower (R23C) than TIAM1 Ref. TIAM1 Ref and variants could not rescue the neurological phenotypes though. Higher/ectopic expression of sif or TIAM1 Ref was toxic, which was also observed to a lesser extent for variants.

Overall, the evidence provided suggests that the 3 variants tested induce partial LoF.

In a recent study cited (PMID: 33328293), Tiam1 KO mice had simplified dendritic arbors, reduced spine density and diminished excitatory transmission in dentate gyrus. The authors comment that this mouse model presented only subtle behavioral abnormalities which they speculate may be secondary to GEF redundancy (eg. Tiam2).

There is no TIAM1-associated phenotype in OMIM/G2P/SysID. TIAM1 is included in PanelApp Australia in the ID and epilepsy panels with green rating.

Consider inclusion in the current panel with amber rating [As authors discuss: some phenotypic features differed in their small cohort and the contribution of other recessive conditions in 2 consanguineous families cannot be excluded. Also: in fig S1 only status of parents but not of affected/unaffected sibs is specified with the exception of Fam1].
Sources: Literature
Intellectual disability v3.1518 THUMPD1 Konstantinos Varvagiannis reviewed gene: THUMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30237576, 35196516; Phenotypes: Global developmental delay, Intellectual disability, Microcephaly, Hearing abnormality, Abnormality of the eye, Febrile seizures, Behavioral abnormality, Abnormality of brain morphology, Abnormality of the face; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Early onset or syndromic epilepsy v2.498 GABRD Ivone Leong Tag Q4_21_rating was removed from gene: GABRD.
Tag Q4_21_NHS_review was removed from gene: GABRD.
Early onset or syndromic epilepsy v2.498 HPDL Ivone Leong Tag Q2_21_rating was removed from gene: HPDL.
Early onset or syndromic epilepsy v2.498 UFSP2 Ivone Leong Tag Q2_21_rating was removed from gene: UFSP2.
Tag Q2_21_expert_review was removed from gene: UFSP2.
Tag Q2_21_NHS_review was removed from gene: UFSP2.
Early onset or syndromic epilepsy v2.498 UFSP2 Sarah Leigh commented on gene: UFSP2: The rating of this gene has been updated followingNHS Genomic Medicine Serviceapproval.
Early onset or syndromic epilepsy v2.498 HPDL Sarah Leigh commented on gene: HPDL
Early onset or syndromic epilepsy v2.498 GABRD Sarah Leigh commented on gene: GABRD: The rating of this gene has been updated followingNHS Genomic Medicine Serviceapproval.
Early onset or syndromic epilepsy v2.498 UFSP2 Ivone Leong Source Expert Review Green was added to UFSP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.498 HPDL Ivone Leong Source Expert Review Green was added to HPDL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.498 GABRD Ivone Leong Source Expert Review Green was added to GABRD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v2.288 VPS41 Ivone Leong Tag Q2_21_rating was removed from gene: VPS41.
Tag Q2_21_NHS_review was removed from gene: VPS41.
Ataxia and cerebellar anomalies - narrow panel v2.288 VPS41 Sarah Leigh commented on gene: VPS41
Ataxia and cerebellar anomalies - narrow panel v2.287 VPS41 Ivone Leong Source Expert Review Green was added to VPS41.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.154 EBP Ivone Leong Tag Q2_21_expert_review was removed from gene: EBP.
Arthrogryposis v3.154 ERBB3 Ivone Leong Tag Q2_21_rating was removed from gene: ERBB3.
Arthrogryposis v3.154 ERGIC1 Ivone Leong Tag Q3_21_rating was removed from gene: ERGIC1.
Arthrogryposis v3.154 FLNA Ivone Leong Tag Q3_21_rating was removed from gene: FLNA.
Arthrogryposis v3.154 KIDINS220 Ivone Leong Tag Q2_21_rating was removed from gene: KIDINS220.
Arthrogryposis v3.154 MED12 Ivone Leong Tag Q3_21_rating was removed from gene: MED12.
Arthrogryposis v3.154 MYLPF Ivone Leong Tag Q2_21_expert_review was removed from gene: MYLPF.
Arthrogryposis v3.154 SLC29A3 Ivone Leong Tag Q4_21_rating was removed from gene: SLC29A3.
Tag Q4_21_NHS_review was removed from gene: SLC29A3.
Arthrogryposis v3.154 SLC6A9 Ivone Leong Tag Q4_21_rating was removed from gene: SLC6A9.
Tag Q4_21_NHS_review was removed from gene: SLC6A9.
Arthrogryposis v3.154 SYNE1 Ivone Leong Tag Q2_21_rating was removed from gene: SYNE1.
Arthrogryposis v3.154 MYL1 Ivone Leong Tag Q2_21_rating was removed from gene: MYL1.
Arthrogryposis v3.154 FBN2 Ivone Leong Tag Q2_21_MOI was removed from gene: FBN2.
Arthrogryposis v3.154 SYNE1 Sarah Leigh commented on gene: SYNE1
Arthrogryposis v3.154 SLC6A9 Sarah Leigh commented on gene: SLC6A9
Arthrogryposis v3.154 SLC29A3 Sarah Leigh commented on gene: SLC29A3
Arthrogryposis v3.154 MYLPF Sarah Leigh commented on gene: MYLPF
Arthrogryposis v3.154 MYL1 Sarah Leigh commented on gene: MYL1
Arthrogryposis v3.154 MED12 Sarah Leigh commented on gene: MED12
Arthrogryposis v3.154 KIDINS220 Sarah Leigh commented on gene: KIDINS220
Arthrogryposis v3.154 FLNA Sarah Leigh commented on gene: FLNA
Arthrogryposis v3.154 FBN2 Sarah Leigh commented on gene: FBN2: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Arthrogryposis v3.154 ERGIC1 Sarah Leigh commented on gene: ERGIC1
Arthrogryposis v3.154 ERBB3 Sarah Leigh commented on gene: ERBB3: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Arthrogryposis v3.154 EBP Sarah Leigh commented on gene: EBP
Arthrogryposis v3.153 SYNE1 Ivone Leong Source Expert Review Green was added to SYNE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.153 SLC6A9 Ivone Leong Source Expert Review Green was added to SLC6A9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.153 SLC29A3 Ivone Leong Source Expert Review Green was added to SLC29A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.153 MYL1 Ivone Leong Source Expert Review Red was added to MYL1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Arthrogryposis v3.153 MED12 Ivone Leong Source Expert Review Green was added to MED12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.153 KIDINS220 Ivone Leong Source Expert Review Green was added to KIDINS220.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.153 FLNA Ivone Leong Source Expert Review Green was added to FLNA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.153 FBN2 Ivone Leong Source NHS GMS was added to FBN2.
Mode of inheritance for gene FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v3.153 ERGIC1 Ivone Leong Source Expert Review Green was added to ERGIC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.153 ERBB3 Ivone Leong Source Expert Review Green was added to ERBB3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.153 EBP Ivone Leong Source Expert Review Green was added to EBP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v1.166 PPP2R5D Ivone Leong Tag Q2_21_phenotype was removed from gene: PPP2R5D.
Adult onset dystonia, chorea or related movement disorder v1.166 VPS16 Ivone Leong Tag Q2_21_rating was removed from gene: VPS16.
Tag Q2_21_NHS_review was removed from gene: VPS16.
Adult onset dystonia, chorea or related movement disorder v1.166 VPS41 Ivone Leong Tag Q2_21_expert_review was removed from gene: VPS41.
Tag Q2_21_NHS_review was removed from gene: VPS41.
Adult onset dystonia, chorea or related movement disorder v1.166 VPS41 Sarah Leigh commented on gene: VPS41
Adult onset dystonia, chorea or related movement disorder v1.166 VPS16 Sarah Leigh commented on gene: VPS16
Adult onset dystonia, chorea or related movement disorder v1.166 PPP2R5D Sarah Leigh commented on gene: PPP2R5D: The rating of this gene has been updated followingNHS Genomic Medicine Serviceapproval.
Adult onset dystonia, chorea or related movement disorder v1.165 VPS16 Ivone Leong Source Expert Review Green was added to VPS16.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v1.165 PPP2R5D Ivone Leong Source Expert Review Green was added to PPP2R5D.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cystic kidney disease v2.35 DZIP1L Yu Leng Phua Deleted their comment
Cystic kidney disease v2.35 DZIP1L Yu Leng Phua edited their review of gene: DZIP1L: Added comment: Four children from three consanguineous families presenting with polycystic kidney disease;
Variants: c.193 T > C; p.(Cys65Arg), and c.216C > G; p.(Cys72Trp);
Functional analyses of the c.216C > G; p.(Cys72Trp) variant indicated mislocalization of mutant DZIP1L;
NOTE: Lack of liver phenotype in these patients; Changed phenotypes to: # 617610 POLYCYSTIC KIDNEY DISEASE 5, PKD5
Cystic kidney disease v2.35 DZIP1L Yu Leng Phua reviewed gene: DZIP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 35211789; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v3.1518 HEATR3 Konstantinos Varvagiannis gene: HEATR3 was added
gene: HEATR3 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: HEATR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEATR3 were set to 35213692
Phenotypes for gene: HEATR3 were set to Anemia; Thrombocytopenia; Growth delay; Short stature; Abnormality of the skeletal system; Abnormality of finger; Abnormality of the thumb; Intellectual disability; Obesity; Abnormality of the face
Penetrance for gene: HEATR3 were set to Complete
Review for gene: HEATR3 was set to AMBER
Added comment: O'Donohue et al (2022 - PMID: 35213692) describe the clinical features of 6 individuals (from 4 unrelated families) with biallelic pathogenic HEATR3 variants.

These included bone marrow failure (anemia/anemia and thrombocytopenia at presentation), short stature/growth retardation (4/6), facial features (5/6 - in some: straight eyebrows, d-s palpebral fissures, synophrys) and skeletal findings incl. disproportionately short fingers/thumb anomaly. ID was reported in 4/6 individuals from 3 families (all: mild ID | 2/6 without ID). The phenotype corresponded overall to a variant form Diamond-Blackfan anemia (DBA, disorder caused by variants in genes encoding for ribosomal proteins) with additional features.

The 1st family (2 affected sibs and parents) underwent WES, not diagnostic for DBA. Analysis suggested variants in HEATR3 (prioritized due to its potential role in ribosome biogenesis) and 4 additional genes as candidates. Collaboration in the European DBA consortium and national DBA consortia led to identification of additional families.

HEATR3 encodes Heat-repeat-containing protein 3 or symportin, a protein that co-imports uL5 (encoded by RPL11) and uL18 (RPL5) in the nucleus where they assemble with 5S rRNA to form 5S RNP. The 5S RNP complex incorporates with maturing large ribosomal subunits to form the central protuberance. When 5S RNP is not incorporated, it accumulates and associates with Hdm2 ubiquitin ligase, the later normally targeting p53 proteasomal degradation.

The following missense and splice variants were identified (NM_182922):
- c.1751G>Α/p.(Gly584Glu) hmz
- c.1337G>A/p.(Cys446Tyr) hmz
- c.399+1G>T in trans with c.719C>T/p.(Pro240Leu)
- c.400T>C/p.(Cys134Arg) hmz

Variants were confirmed with Sanger sequencing. They were dispersed across HEATR3 without clustering although they affect residues either in the ARM (38-320) or HEAT (415-675) repeat domains, at positions evolutionary conserved, with in silico predictions in favor of a deleterious effect. With the exception of Cys134Arg (AF:4.11x10-6/no hmz), all were absent from gnomAD.

Studies in yeast suggested that deletions in symportin gene (syo1) lead to a mild growth defect and accumulation of 40S subunits. Similarly, two yeast strains engineered to test for the effect of the p.Gly584Glu (yeast p.Gly522Glu/Ala) exhibited growth defect and ribosomal subunit imbalance, both restored by wt Syo1.

HA-tagged HEATR3 in HeLa cells suggested that the co-translational capture mechanism to chaperone uL18 (RPL5) is conserved in human cells but was not observed upon expression of the p.Cys446Tyr variant.

While HEATR3 transcription was not affected in LCLs from individuals hmz for Gly584Glu or Cys446Tyr, protein levels were barely detectable, suggesting destabilization of the protein.

While uL18 accumulates in cytoplasm and nucleus with expected enrichment in nucleolus, upon siRNA knockdown of HEATR3 in HeLa cells this enrichment was lost. Studies in fibroblasts (Gly584Glu) demonstrated reduced uL18 nuclear staining. Overall, HEATR3 was suggested to be important for nuclear import of uL18 (though not for uL5).

LCL studies demonstrated pre-rRNA processing defects in patient cells with accumulation of 32S and 12S pre-rRNAs, the former being reminiscent of accumulations observed in individuals with RPL5- and RPL11-related DBA. Expression of wt HEATR3 restored processing defects.

LCLs from affected individuals revealed loss of free 60S subunits (as in yeast) with expression of wt cDNA restoring Nl levels.

Western blots of LCLs demonstrated that the levels of uL5, uL18 and p53 were not affected (the latter also observed in RPL5-related DBA)

Studies of bone marrow smears from 2 affected individuals allowed to conclude in a strong defect in erythroid cell proliferation.

Currently, there is no HEATR3-associated phenotype in OMIM, PanelApp Australia, G2P or the SysID database.

Consider inclusion in the ID panel with amber (mild ID in >3 individuals/families/variants although not universal feature) or green rating. Also consider inclusion in other possibly relevant panels eg. for cytopenias/congenital anemias, short stature, etc.
Sources: Literature
Adult onset neurodegenerative disorder v2.267 HTT_CAG Arina Puzriakova Classified STR: HTT_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v2.267 HTT_CAG Arina Puzriakova Str: htt_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.105 HTT_CAG Arina Puzriakova Classified STR: HTT_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.105 HTT_CAG Arina Puzriakova Str: htt_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.289 HTT_CAG Arina Puzriakova Classified STR: HTT_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.289 HTT_CAG Arina Puzriakova Str: htt_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.298 HTT_CAG Arina Puzriakova Classified STR: HTT_CAG as Green List (high evidence)
Hereditary ataxia v1.298 HTT_CAG Arina Puzriakova Str: htt_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 HTT_CAG Arina Puzriakova Classified STR: HTT_CAG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 HTT_CAG Arina Puzriakova Str: htt_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.104 TBP_CAG Arina Puzriakova Classified STR: TBP_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.104 TBP_CAG Arina Puzriakova Str: tbp_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.288 TBP_CAG Arina Puzriakova Classified STR: TBP_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.288 TBP_CAG Arina Puzriakova Str: tbp_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.297 TBP_CAG Arina Puzriakova Classified STR: TBP_CAG as Green List (high evidence)
Hereditary ataxia v1.297 TBP_CAG Arina Puzriakova Str: tbp_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.75 TBP_CAG Arina Puzriakova Classified STR: TBP_CAG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.75 TBP_CAG Arina Puzriakova Str: tbp_cag has been classified as Green List (High Evidence).
Brain channelopathy v1.77 TBP_CAG Arina Puzriakova Classified STR: TBP_CAG as Green List (high evidence)
Brain channelopathy v1.77 TBP_CAG Arina Puzriakova Str: tbp_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.103 PPP2R2B_CAG Arina Puzriakova Classified STR: PPP2R2B_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.103 PPP2R2B_CAG Arina Puzriakova Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.287 PPP2R2B_CAG Arina Puzriakova Classified STR: PPP2R2B_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.287 PPP2R2B_CAG Arina Puzriakova Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.296 PPP2R2B_CAG Arina Puzriakova Classified STR: PPP2R2B_CAG as Green List (high evidence)
Hereditary ataxia v1.296 PPP2R2B_CAG Arina Puzriakova Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.295 NOP56_GGCCTG Arina Puzriakova Classified STR: NOP56_GGCCTG as Green List (high evidence)
Hereditary ataxia v1.295 NOP56_GGCCTG Arina Puzriakova Str: nop56_ggcctg has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.74 NOP56_GGCCTG Arina Puzriakova Classified STR: NOP56_GGCCTG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.74 NOP56_GGCCTG Arina Puzriakova Str: nop56_ggcctg has been classified as Green List (High Evidence).
Amyotrophic lateral sclerosis/motor neuron disease v1.56 NOP56_GGCCTG Arina Puzriakova Classified STR: NOP56_GGCCTG as Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.56 NOP56_GGCCTG Arina Puzriakova Str: nop56_ggcctg has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.102 JPH3_CTG Arina Puzriakova Classified STR: JPH3_CTG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.102 JPH3_CTG Arina Puzriakova Str: jph3_ctg has been classified as Green List (High Evidence).
Early onset dystonia v1.111 JPH3_CTG Arina Puzriakova Classified STR: JPH3_CTG as Green List (high evidence)
Early onset dystonia v1.111 JPH3_CTG Arina Puzriakova Str: jph3_ctg has been classified as Green List (High Evidence).
Intellectual disability v3.1518 FMR1_CGG Arina Puzriakova Classified STR: FMR1_CGG as Green List (high evidence)
Intellectual disability v3.1518 FMR1_CGG Arina Puzriakova Str: fmr1_cgg has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.73 JPH3_CTG Arina Puzriakova Classified STR: JPH3_CTG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.73 JPH3_CTG Arina Puzriakova Str: jph3_ctg has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.286 FXN_GAA Arina Puzriakova Classified STR: FXN_GAA as Green List (high evidence)
Hereditary spastic paraplegia v1.286 FXN_GAA Arina Puzriakova Str: fxn_gaa has been classified as Green List (High Evidence).
Hereditary neuropathy v1.441 FXN_GAA Arina Puzriakova Classified STR: FXN_GAA as Green List (high evidence)
Hereditary neuropathy v1.441 FXN_GAA Arina Puzriakova Str: fxn_gaa has been classified as Green List (High Evidence).
Hereditary ataxia v1.294 FXN_GAA Arina Puzriakova Classified STR: FXN_GAA as Green List (high evidence)
Hereditary ataxia v1.294 FXN_GAA Arina Puzriakova Str: fxn_gaa has been classified as Green List (High Evidence).
Intellectual disability v3.1518 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
Intellectual disability v3.1518 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
Mitochondrial disorders v2.92 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
Mitochondrial disorders v2.92 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v1.45 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
Skeletal Muscle Channelopathies v1.45 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
Congenital myopathy v2.79 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
Congenital myopathy v2.79 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
Congenital muscular dystrophy v2.27 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
Congenital muscular dystrophy v2.27 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
Hereditary ataxia v1.293 CSTB_CCCCGCCCCGCG Arina Puzriakova Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Hereditary ataxia v1.293 CSTB_CCCCGCCCCGCG Arina Puzriakova Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v2.497 CSTB_CCCCGCCCCGCG Arina Puzriakova Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Early onset or syndromic epilepsy v2.497 CSTB_CCCCGCCCCGCG Arina Puzriakova Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Brain channelopathy v1.76 CSTB_CCCCGCCCCGCG Arina Puzriakova Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Brain channelopathy v1.76 CSTB_CCCCGCCCCGCG Arina Puzriakova Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.285 CACNA1A_CAG Arina Puzriakova Classified STR: CACNA1A_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.285 CACNA1A_CAG Arina Puzriakova Str: cacna1a_cag has been classified as Green List (High Evidence).
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).
Adult onset neurodegenerative disorder 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)
Childhood onset hereditary spastic paraplegia 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.
Adult onset hereditary spastic paraplegia 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 with onset in adulthood 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 - narrow panel 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.
Adult onset dystonia, chorea or related movement disorder 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.
Adult onset neurodegenerative disorder 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)
Childhood onset hereditary spastic paraplegia 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)
Childhood onset dystonia, chorea or related movement disorder 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 - narrow panel v2.284 TBP_CAG Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG.
Adult onset neurodegenerative disorder 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.
Childhood onset hereditary spastic paraplegia 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.
Adult onset hereditary spastic paraplegia 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 with onset in adulthood 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 - narrow panel 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.
Adult onset dystonia, chorea or related movement disorder 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 - narrow panel 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)
Adult onset neurodegenerative disorder 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)
Adult onset dystonia, chorea or related movement disorder v1.162 JPH3_CTG Arina Puzriakova Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40.
Adult onset neurodegenerative disorder 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.
Childhood onset hereditary spastic paraplegia 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.
Childhood onset dystonia, chorea or related movement disorder v1.213 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Ataxia and cerebellar anomalies - narrow panel 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 with onset in adulthood 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.
Adult onset neurodegenerative disorder 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 with onset in adulthood 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)
Childhood onset dystonia, chorea or related movement disorder 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 - narrow panel 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.
Adult onset dystonia, chorea or related movement disorder 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.
Adult onset neurodegenerative disorder 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.
Childhood onset hereditary spastic paraplegia 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.
Adult onset hereditary spastic paraplegia 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 with onset in adulthood 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 - narrow panel 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.
Adult onset dystonia, chorea or related movement disorder v1.162 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Adult onset neurodegenerative disorder 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)
Childhood onset dystonia, chorea or related movement disorder 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)
Adult onset dystonia, chorea or related movement disorder 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.
Adult onset neurodegenerative disorder 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.
Childhood onset hereditary spastic paraplegia 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.
Adult onset hereditary spastic paraplegia 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 with onset in adulthood 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 - narrow panel 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.
Adult onset neurodegenerative disorder 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.
Childhood onset hereditary spastic paraplegia 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.
Adult onset hereditary spastic paraplegia 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 with onset in adulthood 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 - narrow panel 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.
Adult onset dystonia, chorea or related movement disorder v1.162 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Adult onset neurodegenerative disorder 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.
Childhood onset hereditary spastic paraplegia 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.
Adult onset hereditary spastic paraplegia 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 with onset in adulthood 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)
Childhood onset dystonia, chorea or related movement disorder 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 - narrow panel 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.
Adult onset dystonia, chorea or related movement disorder 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.
Adult onset neurodegenerative disorder 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.
Childhood onset hereditary spastic paraplegia 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.
Adult onset hereditary spastic paraplegia 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 with onset in adulthood 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 - narrow panel 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.
Adult onset neurodegenerative disorder 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.
Childhood onset hereditary spastic paraplegia 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.
Adult onset hereditary spastic paraplegia 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 with onset in adulthood 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 - narrow panel 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.
Adult onset dystonia, chorea or related movement disorder 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.
Adult onset neurodegenerative disorder 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 with onset in adulthood 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 - narrow panel 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.
Adult onset dystonia, chorea or related movement disorder v1.162 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Adult onset neurodegenerative disorder 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)
Adult onset neurodegenerative disorder v2.263 SORL1 Eleanor Williams Tag Q3_21_NHS_review was removed from gene: SORL1.
Adult onset neurodegenerative disorder 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.
Adult onset neurodegenerative disorder v2.263 ERBB4 Eleanor Williams Tag Q2_21_rating was removed from gene: ERBB4.
Adult onset neurodegenerative disorder v2.263 FIG4 Sarah Leigh commented on gene: FIG4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Adult onset neurodegenerative disorder v2.263 ERBB4 Sarah Leigh commented on gene: ERBB4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Adult onset neurodegenerative disorder 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)
Adult onset neurodegenerative disorder 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 with onset in adulthood v2.144 ADGRG1 Eleanor Williams Tag Q2_21_phenotype was removed from gene: ADGRG1.
Hereditary ataxia with onset in adulthood v2.144 AP1S2 Eleanor Williams Tag Q2_21_phenotype was removed from gene: AP1S2.
Hereditary ataxia with onset in adulthood v2.144 XRCC1 Eleanor Williams Tag Q2_21_expert_review was removed from gene: XRCC1.
Hereditary ataxia with onset in adulthood 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 with onset in adulthood v2.144 UCHL1 Eleanor Williams Tag Q2_21_expert_review was removed from gene: UCHL1.
Hereditary ataxia with onset in adulthood v2.144 TSEN15 Eleanor Williams Tag Q2_21_rating was removed from gene: TSEN15.
Hereditary ataxia with onset in adulthood v2.144 TBC1D23 Eleanor Williams Tag Q2_21_phenotype was removed from gene: TBC1D23.
Hereditary ataxia with onset in adulthood v2.144 SLC9A1 Eleanor Williams Tag Q2_21_phenotype was removed from gene: SLC9A1.
Hereditary ataxia with onset in adulthood v2.144 SCYL1 Eleanor Williams Tag Q2_21_phenotype was removed from gene: SCYL1.
Hereditary ataxia with onset in adulthood v2.144 RORA Eleanor Williams Tag Q2_21_phenotype was removed from gene: RORA.
Hereditary ataxia with onset in adulthood v2.144 PRICKLE1 Eleanor Williams Tag Q2_21_phenotype was removed from gene: PRICKLE1.
Hereditary ataxia with onset in adulthood v2.144 MAPK8IP3 Eleanor Williams Tag Q4_21_rating was removed from gene: MAPK8IP3.
Hereditary ataxia with onset in adulthood v2.144 ERCC4 Eleanor Williams Tag Q2_21_rating was removed from gene: ERCC4.
Hereditary ataxia with onset in adulthood v2.144 EBF3 Eleanor Williams Tag Q2_21_phenotype was removed from gene: EBF3.
Hereditary ataxia with onset in adulthood v2.144 CLP1 Eleanor Williams Tag Q2_21_phenotype was removed from gene: CLP1.
Hereditary ataxia with onset in adulthood v2.144 CHMP1A Eleanor Williams Tag Q2_21_phenotype was removed from gene: CHMP1A.
Hereditary ataxia with onset in adulthood v2.144 B4GAT1 Eleanor Williams Tag Q3_21_rating was removed from gene: B4GAT1.
Hereditary ataxia with onset in adulthood v2.144 AUH Eleanor Williams Tag Q2_21_rating was removed from gene: AUH.
Hereditary ataxia with onset in adulthood 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 with onset in adulthood v2.144 AMPD2 Eleanor Williams Tag Q2_21_phenotype was removed from gene: AMPD2.
Hereditary ataxia with onset in adulthood v2.144 ADPRHL2 Eleanor Williams Tag Q2_21_expert_review was removed from gene: ADPRHL2.
Hereditary ataxia with onset in adulthood v2.144 ABCB7 Eleanor Williams Tag Q2_21_phenotype was removed from gene: ABCB7.
Hereditary ataxia with onset in adulthood v2.144 XRCC1 Sarah Leigh commented on gene: XRCC1
Hereditary ataxia with onset in adulthood v2.144 VPS41 Sarah Leigh commented on gene: VPS41
Hereditary ataxia with onset in adulthood v2.144 UCHL1 Sarah Leigh commented on gene: UCHL1
Hereditary ataxia with onset in adulthood v2.144 TSEN15 Sarah Leigh commented on gene: TSEN15
Hereditary ataxia with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood v2.144 MAPK8IP3 Sarah Leigh commented on gene: MAPK8IP3
Hereditary ataxia with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood v2.144 B4GAT1 Sarah Leigh commented on gene: B4GAT1
Hereditary ataxia with onset in adulthood v2.144 AUH Sarah Leigh commented on gene: AUH
Hereditary ataxia with onset in adulthood 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 with onset in adulthood v2.144 AP1S2 Sarah Leigh commented on gene: AP1S2
Hereditary ataxia with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood 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 with onset in adulthood v2.142 TMEM106B Eleanor Williams Publications for gene: TMEM106B were set to
Hereditary ataxia with onset in adulthood v2.141 TMEM106B Eleanor Williams Tag for-review was removed from gene: TMEM106B.
Hereditary ataxia with onset in adulthood v2.141 TMEM106B Sarah Leigh commented on gene: TMEM106B
Hereditary ataxia with onset in adulthood 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 - narrow panel v1.223 RNU7-1 Ivone Leong Tag for-review was removed from gene: RNU7-1.
White matter disorders and cerebral calcification - narrow panel v1.223 NUP188 Ivone Leong Tag watchlist was removed from gene: NUP188.
White matter disorders and cerebral calcification - narrow panel 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 - narrow panel v1.223 SCAF4 Ivone Leong Tag for-review was removed from gene: SCAF4.
White matter disorders and cerebral calcification - narrow panel v1.223 AP4B1 Ivone Leong Tag for-review was removed from gene: AP4B1.
White matter disorders and cerebral calcification - narrow panel v1.223 TMEM106B Ivone Leong Tag for-review was removed from gene: TMEM106B.
White matter disorders and cerebral calcification - narrow panel v1.223 STN1 Ivone Leong Tag for-review was removed from gene: STN1.
White matter disorders and cerebral calcification - narrow panel 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 - narrow panel v1.223 TMEM106B Sarah Leigh commented on gene: TMEM106B
White matter disorders and cerebral calcification - narrow panel v1.223 AP4B1 Sarah Leigh commented on gene: AP4B1
White matter disorders and cerebral calcification - narrow panel v1.223 SCAF4 Sarah Leigh commented on gene: SCAF4
White matter disorders and cerebral calcification - narrow panel v1.223 NUP188 Sarah Leigh commented on gene: NUP188
White matter disorders and cerebral calcification - narrow panel v1.223 RNU7-1 Sarah Leigh commented on gene: RNU7-1
White matter disorders and cerebral calcification - narrow panel 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 - narrow panel 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 - narrow panel 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 - narrow panel 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 - narrow panel 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 - narrow panel 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 - NOT chromosomal v2.25 SMC1A Ivone Leong Tag for-review was removed from gene: SMC1A.
Holoprosencephaly - NOT chromosomal v2.25 STAG2 Ivone Leong Tag for-review was removed from gene: STAG2.
Holoprosencephaly - NOT chromosomal v2.25 STAG2 Sarah Leigh commented on gene: STAG2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Holoprosencephaly - NOT chromosomal v2.25 SMC1A Sarah Leigh commented on gene: SMC1A
Holoprosencephaly - NOT chromosomal 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 - NOT chromosomal 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)
Childhood onset hereditary spastic paraplegia v2.125 RNU7-1 Ivone Leong Tag for-review was removed from gene: RNU7-1.
Childhood onset hereditary spastic paraplegia v2.125 PCYT2 Ivone Leong Tag for-review was removed from gene: PCYT2.
Childhood onset hereditary spastic paraplegia v2.125 STN1 Ivone Leong Tag for-review was removed from gene: STN1.
Childhood onset hereditary spastic paraplegia v2.125 STN1 Sarah Leigh commented on gene: STN1: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Childhood onset hereditary spastic paraplegia v2.125 PCYT2 Sarah Leigh commented on gene: PCYT2
Childhood onset hereditary spastic paraplegia v2.125 RNU7-1 Sarah Leigh commented on gene: RNU7-1
Childhood onset hereditary spastic paraplegia 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)
Childhood onset hereditary spastic paraplegia 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)
Childhood onset hereditary spastic paraplegia 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)
Adult onset leukodystrophy v1.40 LIG3 Eleanor Williams Tag Q2_21_rating was removed from gene: LIG3.
Adult onset leukodystrophy v1.40 EPRS Eleanor Williams Tag Q2_21_rating was removed from gene: EPRS.
Adult onset leukodystrophy v1.40 EARS2 Eleanor Williams Tag Q4_21_expert_review was removed from gene: EARS2.
Adult onset leukodystrophy v1.40 CYP7B1 Eleanor Williams Tag Q2_21_expert_review was removed from gene: CYP7B1.
Adult onset leukodystrophy v1.40 CTC1 Eleanor Williams Tag Q3_21_expert_review was removed from gene: CTC1.
Adult onset leukodystrophy v1.40 AUH Eleanor Williams Tag Q2_21_rating was removed from gene: AUH.
Adult onset leukodystrophy v1.40 LIG3 Sarah Leigh commented on gene: LIG3
Adult onset leukodystrophy v1.40 EPRS Sarah Leigh commented on gene: EPRS
Adult onset leukodystrophy v1.40 EARS2 Sarah Leigh commented on gene: EARS2
Adult onset leukodystrophy v1.40 CYP7B1 Sarah Leigh commented on gene: CYP7B1
Adult onset leukodystrophy v1.40 CTC1 Sarah Leigh commented on gene: CTC1
Adult onset leukodystrophy v1.40 AUH Sarah Leigh commented on gene: AUH
Adult onset leukodystrophy 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)
Adult onset leukodystrophy 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)
Adult onset leukodystrophy 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)
Adult onset leukodystrophy 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)
Adult onset leukodystrophy 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 - narrow panel v1.222 TWNK Arina Puzriakova commented on gene: TWNK
White matter disorders and cerebral calcification - narrow panel v1.222 SLC25A4 Arina Puzriakova commented on gene: SLC25A4
White matter disorders and cerebral calcification - narrow panel 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 - narrow panel 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
Adult onset leukodystrophy v1.38 LARS2 Eleanor Williams Tag for-review was removed from gene: LARS2.
Adult onset leukodystrophy v1.38 LARS2 Sarah Leigh commented on gene: LARS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy 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)
Adult onset neurodegenerative disorder v2.261 HTT_CAG Arina Puzriakova Classified STR: HTT_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v2.261 HTT_CAG Arina Puzriakova Str: htt_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v2.260 HTT_CAG Arina Puzriakova Tag for-review was removed from STR: HTT_CAG.
Tag curated_removed was removed from STR: HTT_CAG.
Adult onset neurodegenerative disorder v2.260 HTT_CAG Arina Puzriakova edited their review of STR: HTT_CAG: Changed rating: GREEN
Adult onset neurodegenerative disorder 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
Wilms tumour with features suggestive of predisposition v0.2 CTR9 Eleanor Williams commented on gene: CTR9
Wilms tumour with features suggestive of predisposition v0.2 REST Eleanor Williams commented on gene: REST
Wilms tumour with features suggestive of predisposition v0.2 TRIM28 Eleanor Williams commented on gene: TRIM28
Wilms tumour with features suggestive of predisposition v0.2 CDKN1C Eleanor Williams commented on gene: CDKN1C
Wilms tumour with features suggestive of predisposition v0.2 WT1 Eleanor Williams commented on gene: WT1
Wilms tumour with features suggestive of predisposition v0.1 CTR9 Eleanor Williams gene: CTR9 was added
gene: CTR9 was added to Wilms tumour with features suggestive of predisposition. Sources: Expert Review Green
Mode of inheritance for gene: CTR9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTR9 were set to 25099282; 29292210
Phenotypes for gene: CTR9 were set to Familial Wilms tumor
Wilms tumour with features suggestive of predisposition v0.1 REST Eleanor Williams gene: REST was added
gene: REST was added to Wilms tumour with features suggestive of predisposition. Sources: Expert Review Green
Mode of inheritance for gene: REST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: REST were set to 26551668
Phenotypes for gene: REST were set to {Wilms tumor 6, susceptibility to}, OMIM:616806
Wilms tumour with features suggestive of predisposition v0.1 TRIM28 Eleanor Williams gene: TRIM28 was added
gene: TRIM28 was added to Wilms tumour with features suggestive of predisposition. Sources: Expert Review Green
Mode of inheritance for gene: TRIM28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM28 were set to 30885698; 29912901; 30694527
Phenotypes for gene: TRIM28 were set to Wilms tumor; Familial Wilms tumor
Wilms tumour with features suggestive of predisposition v0.1 CDKN1C Eleanor Williams gene: CDKN1C was added
gene: CDKN1C was added to Wilms tumour with features suggestive of predisposition. Sources: Expert Review Green
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: CDKN1C were set to 10424812
Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome, OMIM:130650
Wilms tumour with features suggestive of predisposition v0.1 WT1 Eleanor Williams gene: WT1 was added
gene: WT1 was added to Wilms tumour with features suggestive of predisposition. Sources: Expert Review Green
Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WT1 were set to 15483024
Phenotypes for gene: WT1 were set to Wilms tumor, type 1, OMIM:194070
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)
Lipodystrophy - childhood onset v2.23 INSR Ivone Leong commented on gene: INSR
Lipodystrophy - childhood onset 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
Leber hereditary optic neuropathy v1.11 DNAJC30 Ivone Leong Tag Q2_21_rating was removed from gene: DNAJC30.
Tag Q2_21_NHS_review was removed from gene: DNAJC30.
Leber hereditary optic neuropathy v1.11 DNAJC30 Ivone Leong commented on gene: DNAJC30: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Leber hereditary optic neuropathy v1.10 DNAJC30 Ivone Leong Source Expert Review Green was added to DNAJC30.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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.