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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
Unexplained young onset end-stage renal disease v1.32 TRIM8 Eleanor Williams Tag Q4_21_rating was removed from gene: TRIM8.
Tag Q4_21_NHS_review was removed from gene: TRIM8.
Unexplained young onset end-stage renal disease v1.32 TRIM8 Eleanor Williams commented on gene: TRIM8
Unexplained young onset end-stage renal disease v1.31 TRIM8 Eleanor Williams Source Expert Review Green was added to TRIM8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Unexplained young onset end-stage renal disease v1.30 VIPAS39 Eleanor Williams Phenotypes for gene: VIPAS39 were changed from Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 to Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404
Unexplained young onset end-stage renal disease v1.29 VIPAS39 Eleanor Williams Tag for-review was removed from gene: VIPAS39.
Unexplained young onset end-stage renal disease v1.29 CD151 Eleanor Williams commented on gene: CD151: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval. This change is from 'Unknown' to 'BIALLELIC, autosomal or pseudoautosomal'.
Unexplained young onset end-stage renal disease v1.29 VIPAS39 Eleanor Williams commented on gene: VIPAS39: The rating of this gene has been updated following NHS Genomic Medicine Service approval. The reviewers note a clear kidney involvement.
Unexplained young onset end-stage renal disease v1.28 CD151 Eleanor Williams Source Expert list was added to CD151.
Unexplained young onset end-stage renal disease v1.28 VIPAS39 Eleanor Williams Source Expert Review Green was added to VIPAS39.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tubulointerstitial kidney disease v1.18 SEC61A1 Eleanor Williams Phenotypes for gene: SEC61A1 were changed from Familial juvenile Hyperuricemic nephropathy-4 MIM 617056 to Familial juvenile Hyperuricemic nephropathy-4 , OMIM:617056
Tubulointerstitial kidney disease v1.17 SEC61A1 Eleanor Williams Tag for-review was removed from gene: SEC61A1.
Tubulointerstitial kidney disease v1.17 DNAJB11 Eleanor Williams Phenotypes for gene: DNAJB11 were changed from Polycystic kidney disease 6 with or without polycystic liver disease MIM 618061; Tubulointerstitial disease to Polycystic kidney disease 6 with or without polycystic liver disease, OMIM:618061; Tubulointerstitial disease
Tubulointerstitial kidney disease v1.16 DNAJB11 Eleanor Williams Tag for-review was removed from gene: DNAJB11.
Tubulointerstitial kidney disease v1.16 SEC61A1 Eleanor Williams commented on gene: SEC61A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. The reviewers note that 2 variants associated with kidney disease on HGMD (reported by Bolar et al. 2016). Zebrafish model shows that knockdown of sec61a1 results in a phenotype consistent with tubular atrophy. Variants in the gene result in abnormal intracellular localisation and aggregation (IHC of patient derived kidney biopsy) or decreased protein levels (transfection of HEK293 cells). They are also unable to rescue the tubular atrophy phenotype in zebrafish embryos with morpholino knockdown of the sec61a1 otholog (Bolar et al. 2016)
Tubulointerstitial kidney disease v1.16 DNAJB11 Eleanor Williams commented on gene: DNAJB11: The rating of this gene has been updated following NHS Genomic Medicine Service approval. The reviewers note a patient with likely pathogenic frameshift who had a later presentation of renal cysts on background of interstitial disease. 19 variants associated with DNAJB11 or AD PKD on HGMD. Recent collaborative paper by Huynh et al. (2020) reports a total of 77 patients (27 pedigrees) that have been described in the literature. The majority of these patients present with polycystic kidneys.
Tubulointerstitial kidney disease v1.15 SEC61A1 Eleanor Williams Source Expert Review Green was added to SEC61A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tubulointerstitial kidney disease v1.15 DNAJB11 Eleanor Williams Source Expert Review Green was added to DNAJB11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v1.30 RNF43 Arina Puzriakova changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Inherited polyposis and early onset colorectal cancer - germline testing v1.30 RNF43 Arina Puzriakova commented on gene: RNF43
Inherited polyposis and early onset colorectal cancer - germline testing v1.29 RNF43 Arina Puzriakova Source Expert Review Green was added to RNF43.
Mode of inheritance for gene RNF43 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Inherited pancreatic cancer v1.20 BRCA1 Arina Puzriakova edited their review of gene: BRCA1: Added comment: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Inherited pancreatic cancer v1.19 BRCA1 Arina Puzriakova Source Expert Review Green was added to BRCA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe insulin resistance and lipodystrophy syndromes v2.23 INSR Ivone Leong commented on gene: INSR
Severe insulin resistance and lipodystrophy syndromes v2.22 INSR Ivone Leong gene: INSR was added
gene: INSR was added to Lipodystrophy - childhood onset. Sources: Expert Review Green
Mode of inheritance for gene: INSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: INSR were set to Diabetes mellitus, insulin-resistant, with acanthosis nigricans, OMIM:610549
Intestinal failure or congenital diarrhoea v1.48 TMPRSS15 Ivone Leong Tag Q2_21_rating was removed from gene: TMPRSS15.
Intestinal failure or congenital diarrhoea v1.48 WNT2B Ivone Leong Tag Q2_21_rating was removed from gene: WNT2B.
Inherited predisposition to acute myeloid leukaemia (AML) v1.21 SAMD9L Arina Puzriakova reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v1.20 SAMD9L Arina Puzriakova gene: SAMD9L was added
gene: SAMD9L was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Expert Review Green
Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SAMD9L were set to 11172908; 10640152
Phenotypes for gene: SAMD9L were set to Monosomy 7 myelodysplasia and leukemia syndrome 1, OMIM:252270
Intestinal failure or congenital diarrhoea v1.48 PLVAP Ivone Leong Tag Q2_21_rating was removed from gene: PLVAP.
Intestinal failure or congenital diarrhoea v1.48 NEUROG3 Ivone Leong Tag Q2_21_rating was removed from gene: NEUROG3.
Renal tubulopathies v2.39 VPS33B Eleanor Williams Phenotypes for gene: VPS33B were changed from Arthrogryposis, renal dysfunction, and cholestasis 1 #208085 to Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085
Renal tubulopathies v2.38 VPS33B Eleanor Williams Tag for-review was removed from gene: VPS33B.
Renal tubulopathies v2.38 VIPAS39 Eleanor Williams Phenotypes for gene: VIPAS39 were changed from Arthrogryposis, renal dysfunction, and cholestasis 2 #613404 to Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404
Renal tubulopathies v2.37 VIPAS39 Eleanor Williams Tag for-review was removed from gene: VIPAS39.
Renal tubulopathies v2.37 SLC2A2 Eleanor Williams Phenotypes for gene: SLC2A2 were changed from Fanconi-Bickel syndrome, MIM# 227810 to Fanconi-Bickel syndrome, OMIM:227810
Inherited breast cancer and ovarian cancer v0.16 PALB2 Arina Puzriakova Phenotypes for gene: PALB2 were changed from Fanconi anemia, complementation group N, 610832; High Risk Breast Cancer; {Pancreatic cancer, susceptibility to, 3}, 613348; Breast and Ovarian Cancer; {Breast cancer, susceptibility to}, 114480 to {Breast cancer, susceptibility to}, OMIM:114480
Renal tubulopathies v2.36 SLC2A2 Eleanor Williams Tag for-review was removed from gene: SLC2A2.
Inherited breast cancer and ovarian cancer v0.15 BRCA2 Arina Puzriakova Phenotypes for gene: BRCA2 were changed from Breast and Ovarian Cancer; Breast cancer; {Breast cancer, male, susceptibility to}, 114480; Hereditary Breast and Ovarian Cancer Syndrome; {Glioblastoma 3},; Hereditary Breast and Ovarian Cancer; {Medulloblastoma}, 155255; Prostate cancer, 176807; {Breast-ovarian cancer, familial, 2}, 612555; High Risk Breast Cancer; Fanconi anemia, complementation group D1, 605724; Wilms tumor, 194070 to {Breast-ovarian cancer, familial, 2}, OMIM:612555
Renal tubulopathies v2.36 SARS2 Eleanor Williams Phenotypes for gene: SARS2 were changed from Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845; Progressive Spastic Paresis to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, OMIM:613845; Progressive Spastic Paresis
Renal tubulopathies v2.35 SARS2 Eleanor Williams Tag for-review was removed from gene: SARS2.
Renal tubulopathies v2.35 HNF4A Eleanor Williams Phenotypes for gene: HNF4A were changed from Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM#616026 to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026
Inherited breast cancer and ovarian cancer v0.14 BRCA1 Arina Puzriakova Phenotypes for gene: BRCA1 were changed from {Breast-ovarian cancer, familial, 1}, 604370; Breast and Ovarian Cancer; {Pancreatic cancer, susceptibility to, 4}, 614320; Breast cancer; Hereditary Breast and Ovarian Cancer Syndrome; Hereditary Breast and Ovarian Cancer; High Risk Breast Cancer to {Breast-ovarian cancer, familial, 1}, OMIM:604370
Renal tubulopathies v2.34 HNF4A Eleanor Williams Tag for-review was removed from gene: HNF4A.
Renal tubulopathies v2.34 CLDN10 Eleanor Williams Phenotypes for gene: CLDN10 were changed from Hypokalemic-alkalotic salt-losing tubulopathy (no OMIM number); HELIX syndrome, OMIM:617671 to Hypokalemic-alkalotic salt-losing tubulopathy; HELIX syndrome, OMIM:617671
Renal tubulopathies v2.33 CLDN10 Eleanor Williams Phenotypes for gene: CLDN10 were changed from Hypokalemic-alkalotic salt-losing tubulopathy (no OMIM number); HELIX syndrome, 617671 to Hypokalemic-alkalotic salt-losing tubulopathy (no OMIM number); HELIX syndrome, OMIM:617671
Intestinal failure or congenital diarrhoea v1.48 AP1S1 Ivone Leong Tag Q2_21_rating was removed from gene: AP1S1.
Renal tubulopathies v2.32 CLDN10 Eleanor Williams Tag for-review was removed from gene: CLDN10.
Inherited breast cancer and ovarian cancer v0.13 ATM Arina Puzriakova Publications for gene: ATM were set to {Breast cancer, susceptibility to}, OMIM:114480
Renal tubulopathies v2.32 VPS33B Eleanor Williams commented on gene: VPS33B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Renal tubulopathies v2.32 VIPAS39 Eleanor Williams commented on gene: VIPAS39: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Renal tubulopathies v2.32 SLC2A2 Eleanor Williams commented on gene: SLC2A2
Renal tubulopathies v2.32 SARS2 Eleanor Williams commented on gene: SARS2
Renal tubulopathies v2.32 HNF4A Eleanor Williams commented on gene: HNF4A
Renal tubulopathies v2.32 CLDN10 Eleanor Williams commented on gene: CLDN10: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Renal tubulopathies v2.31 VPS33B Eleanor Williams Source Expert Review Green was added to VPS33B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal tubulopathies v2.31 VIPAS39 Eleanor Williams Source Expert Review Green was added to VIPAS39.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal tubulopathies v2.31 SLC2A2 Eleanor Williams Source Expert Review Green was added to SLC2A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal tubulopathies v2.31 SARS2 Eleanor Williams Source Expert Review Green was added to SARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal tubulopathies v2.31 HNF4A Eleanor Williams Source Expert Review Green was added to HNF4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal tubulopathies v2.31 CLDN10 Eleanor Williams Source Expert Review Green was added to CLDN10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v1.48 XIAP Eleanor Williams commented on gene: XIAP: This gene has previously been called BIRC4
Intestinal failure or congenital diarrhoea v1.48 XIAP Eleanor Williams commented on gene: XIAP
Intestinal failure or congenital diarrhoea v1.48 WNT2B Eleanor Williams commented on gene: WNT2B
Intestinal failure or congenital diarrhoea v1.48 TTC7A Eleanor Williams commented on gene: TTC7A
Intestinal failure or congenital diarrhoea v1.48 TTC37 Eleanor Williams commented on gene: TTC37
Intestinal failure or congenital diarrhoea v1.48 TMPRSS15 Eleanor Williams commented on gene: TMPRSS15
Intestinal failure or congenital diarrhoea v1.48 TERT Eleanor Williams commented on gene: TERT
Intestinal failure or congenital diarrhoea v1.48 STXBP2 Eleanor Williams commented on gene: STXBP2
Intestinal failure or congenital diarrhoea v1.48 STX3 Eleanor Williams commented on gene: STX3
Intestinal failure or congenital diarrhoea v1.48 SPINT2 Eleanor Williams commented on gene: SPINT2
Intestinal failure or congenital diarrhoea v1.48 SLC9A3 Eleanor Williams commented on gene: SLC9A3
Intestinal failure or congenital diarrhoea v1.48 SLC5A1 Eleanor Williams commented on gene: SLC5A1
Intestinal failure or congenital diarrhoea v1.48 SLC39A4 Eleanor Williams commented on gene: SLC39A4
Intestinal failure or congenital diarrhoea v1.48 SLC26A3 Eleanor Williams commented on gene: SLC26A3
Intestinal failure or congenital diarrhoea v1.48 SLC10A2 Eleanor Williams commented on gene: SLC10A2: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 SLC10A2 Eleanor Williams commented on gene: SLC10A2
Intestinal failure or congenital diarrhoea v1.48 SKIV2L Eleanor Williams commented on gene: SKIV2L
Intestinal failure or congenital diarrhoea v1.48 SI Eleanor Williams commented on gene: SI
Intestinal failure or congenital diarrhoea v1.48 SAR1B Eleanor Williams commented on gene: SAR1B
Intestinal failure or congenital diarrhoea v1.48 RFX6 Eleanor Williams commented on gene: RFX6
Intestinal failure or congenital diarrhoea v1.48 PLVAP Eleanor Williams commented on gene: PLVAP
Intestinal failure or congenital diarrhoea v1.48 PCSK1 Eleanor Williams commented on gene: PCSK1: Two patients reported in PMID: 9207799 and PMID: 14617756 are reported to have PC1 deficiency with a obesity, hypoadrenalism, reactive hypoglycemia, and elevated circulating levels of certain prohormones phenotype. The second patient (PMID: 14617756) had severe refractory neonatal diarrhea, malabsorptive in type and re-investigation of the first patient showed marked small-intestinal absorptive dysfunction. Both patients were found to have compound heterozygous protein altering variants in PC1 (now known as PCSK1). PMID: 17595246 - report a 3rd individual who was homozygous for a novel missense mutation Ser307Leu in PCSK1 who presented with obesity and persistent diarrhea.
Intestinal failure or congenital diarrhoea v1.48 PCSK1 Eleanor Williams commented on gene: PCSK1
Intestinal failure or congenital diarrhoea v1.48 NEUROG3 Eleanor Williams commented on gene: NEUROG3
Intestinal failure or congenital diarrhoea v1.48 MYO5B Eleanor Williams commented on gene: MYO5B
Intestinal failure or congenital diarrhoea v1.48 MTTP Eleanor Williams commented on gene: MTTP: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 MTTP Eleanor Williams commented on gene: MTTP
Intestinal failure or congenital diarrhoea v1.48 LRBA Eleanor Williams commented on gene: LRBA
Intestinal failure or congenital diarrhoea v1.48 LCT Eleanor Williams commented on gene: LCT
Intestinal failure or congenital diarrhoea v1.48 KMT2D Eleanor Williams commented on gene: KMT2D: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 KMT2D Eleanor Williams commented on gene: KMT2D
Intestinal failure or congenital diarrhoea v1.48 ICOS Eleanor Williams commented on gene: ICOS
Intestinal failure or congenital diarrhoea v1.48 GUCY2C Eleanor Williams commented on gene: GUCY2C
Intestinal failure or congenital diarrhoea v1.48 FOXP3 Eleanor Williams commented on gene: FOXP3
Intestinal failure or congenital diarrhoea v1.48 FAT4 Eleanor Williams commented on gene: FAT4: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 FAT4 Eleanor Williams commented on gene: FAT4
Intestinal failure or congenital diarrhoea v1.48 EPCAM Eleanor Williams commented on gene: EPCAM: This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 EPCAM Eleanor Williams commented on gene: EPCAM
Intestinal failure or congenital diarrhoea v1.48 EGFR Eleanor Williams commented on gene: EGFR
Intestinal failure or congenital diarrhoea v1.48 DGAT1 Eleanor Williams commented on gene: DGAT1
Intestinal failure or congenital diarrhoea v1.48 CTLA4 Eleanor Williams commented on gene: CTLA4
Intestinal failure or congenital diarrhoea v1.48 CD55 Eleanor Williams commented on gene: CD55
Intestinal failure or congenital diarrhoea v1.48 CCBE1 Eleanor Williams commented on gene: CCBE1: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 CCBE1 Eleanor Williams commented on gene: CCBE1
Intestinal failure or congenital diarrhoea v1.48 ARX Eleanor Williams commented on gene: ARX
Intestinal failure or congenital diarrhoea v1.48 APOB Eleanor Williams commented on gene: APOB: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 APOB Eleanor Williams commented on gene: APOB
Intestinal failure or congenital diarrhoea v1.48 AP1S1 Eleanor Williams commented on gene: AP1S1
Intestinal failure or congenital diarrhoea v1.48 ANGPTL3 Eleanor Williams commented on gene: ANGPTL3: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 ANGPTL3 Eleanor Williams commented on gene: ANGPTL3
Intestinal failure or congenital diarrhoea v1.48 ADAMTS3 Eleanor Williams commented on gene: ADAMTS3: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 ADAMTS3 Eleanor Williams commented on gene: ADAMTS3
Intestinal failure or congenital diarrhoea v1.48 ADAM17 Eleanor Williams commented on gene: ADAM17: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Intestinal failure or congenital diarrhoea v1.48 ADAM17 Eleanor Williams commented on gene: ADAM17
Intestinal failure or congenital diarrhoea v1.47 XIAP Ivone Leong gene: XIAP was added
gene: XIAP was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: XIAP were set to Lymphoproliferative syndrome, X-linked, 2, OMIM:300635
Intestinal failure or congenital diarrhoea v1.47 WNT2B Ivone Leong Source Expert Review Green was added to WNT2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v1.47 TTC7A Ivone Leong gene: TTC7A was added
gene: TTC7A was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC7A were set to Gastrointestinal defects and immunodeficiency syndrome, OMIM:243150
Intestinal failure or congenital diarrhoea v1.47 TMPRSS15 Ivone Leong Source Expert Review Green was added to TMPRSS15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v1.47 TERT Ivone Leong gene: TERT was added
gene: TERT was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: TERT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TERT were set to Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Intestinal failure or congenital diarrhoea v1.47 SLC5A1 Ivone Leong gene: SLC5A1 was added
gene: SLC5A1 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: SLC5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A1 were set to Glucose/galactose malabsorption, OMIM:606824
Intestinal failure or congenital diarrhoea v1.47 SLC39A4 Ivone Leong gene: SLC39A4 was added
gene: SLC39A4 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica, OMIM:201100
Intestinal failure or congenital diarrhoea v1.47 SLC10A2 Ivone Leong gene: SLC10A2 was added
gene: SLC10A2 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: SLC10A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC10A2 were set to ?Bile acid malabsorption, primary, 1, OMIM:613291
Intestinal failure or congenital diarrhoea v1.47 SI Ivone Leong gene: SI was added
gene: SI was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: SI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SI were set to Sucrase-isomaltase deficiency, congenital, OMIM:222900
Intestinal failure or congenital diarrhoea v1.47 SAR1B Ivone Leong gene: SAR1B was added
gene: SAR1B was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAR1B were set to Chylomicron retention disease, OMIM:246700
Intestinal failure or congenital diarrhoea v1.47 RFX6 Ivone Leong gene: RFX6 was added
gene: RFX6 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFX6 were set to Mitchell-Riley syndrome, OMIM:615710
Intestinal failure or congenital diarrhoea v1.47 PLVAP Ivone Leong Source Expert Review Green was added to PLVAP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v1.47 PCSK1 Ivone Leong gene: PCSK1 was added
gene: PCSK1 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: PCSK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCSK1 were set to Obesity with impaired prohormone processing, OMIM:600955
Intestinal failure or congenital diarrhoea v1.47 NEUROG3 Ivone Leong Source Expert Review Green was added to NEUROG3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v1.47 MTTP Ivone Leong gene: MTTP was added
gene: MTTP was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTTP were set to Abetalipoproteinemia, OMIM:200100
Intestinal failure or congenital diarrhoea v1.47 LRBA Ivone Leong gene: LRBA was added
gene: LRBA was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700
Intestinal failure or congenital diarrhoea v1.47 LCT Ivone Leong gene: LCT was added
gene: LCT was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: LCT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LCT were set to Lactase deficiency, congenital, OMIM:223000
Intestinal failure or congenital diarrhoea v1.47 KMT2D Ivone Leong gene: KMT2D was added
gene: KMT2D was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT2D were set to Kabuki syndrome 1, OMIM:147920
Intestinal failure or congenital diarrhoea v1.47 ICOS Ivone Leong gene: ICOS was added
gene: ICOS was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: ICOS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ICOS were set to Immunodeficiency, common variable, 1, OMIM:607594
Intestinal failure or congenital diarrhoea v1.47 FOXP3 Ivone Leong gene: FOXP3 was added
gene: FOXP3 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FOXP3 were set to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, OMIM:304790
Intestinal failure or congenital diarrhoea v1.47 FAT4 Ivone Leong gene: FAT4 was added
gene: FAT4 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAT4 were set to Hennekam lymphangiectasia-lymphedema syndrome 2, OMIM:616006
Intestinal failure or congenital diarrhoea v1.47 EGFR Ivone Leong gene: EGFR was added
gene: EGFR was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: EGFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EGFR were set to 26436111; 29899996; 24691054
Phenotypes for gene: EGFR were set to ?Inflammatory skin and bowel disease, neonatal, 2, OMIM:616069
Intestinal failure or congenital diarrhoea v1.47 CTLA4 Ivone Leong gene: CTLA4 was added
gene: CTLA4 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: CTLA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CTLA4 were set to Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation, OMIM:616100; {Celiac disease, susceptibility to, 3}, OMIM:609755
Intestinal failure or congenital diarrhoea v1.47 CD55 Ivone Leong gene: CD55 was added
gene: CD55 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: CD55 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD55 were set to Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, OMIM:226300
Intestinal failure or congenital diarrhoea v1.47 CCBE1 Ivone Leong gene: CCBE1 was added
gene: CCBE1 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCBE1 were set to Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
Intestinal failure or congenital diarrhoea v1.47 ARX Ivone Leong gene: ARX was added
gene: ARX was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ARX were set to Lissencephaly, X-linked 2, OMIM:300215
Intestinal failure or congenital diarrhoea v1.47 APOB Ivone Leong gene: APOB was added
gene: APOB was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: APOB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOB were set to Hypobetalipoproteinemia, OMIM:615558
Intestinal failure or congenital diarrhoea v1.47 AP1S1 Ivone Leong Source Expert Review Green was added to AP1S1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v1.47 ANGPTL3 Ivone Leong gene: ANGPTL3 was added
gene: ANGPTL3 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: ANGPTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANGPTL3 were set to Hypobetalipoproteinemia, familial, 2, OMIM:605019
Intestinal failure or congenital diarrhoea v1.47 ADAMTS3 Ivone Leong gene: ADAMTS3 was added
gene: ADAMTS3 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: ADAMTS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS3 were set to Hennekam lymphangiectasia-lymphedema syndrome 3, OMIM:618154
Intestinal failure or congenital diarrhoea v1.47 ADAM17 Ivone Leong gene: ADAM17 was added
gene: ADAM17 was added to Intestinal failure. Sources: Expert Review Green
Mode of inheritance for gene: ADAM17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAM17 were set to ?Inflammatory skin and bowel disease, neonatal, 1, OMIM:614328
Inherited breast cancer and ovarian cancer v0.12 CHEK2 Arina Puzriakova Publications for gene: CHEK2 were set to {Breast cancer, susceptibility to}, OMIM:114480
Inherited breast cancer and ovarian cancer v0.11 ATM Arina Puzriakova Phenotypes for gene: ATM were changed from to {Breast cancer, susceptibility to}, OMIM:114480
Inherited breast cancer and ovarian cancer v0.10 CHEK2 Arina Puzriakova Phenotypes for gene: CHEK2 were changed from to {Breast cancer, susceptibility to}, OMIM:114480
Inherited breast cancer and ovarian cancer v0.9 CHEK2 Arina Puzriakova reviewed gene: CHEK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited breast cancer and ovarian cancer v0.9 ATM Arina Puzriakova reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited breast cancer and ovarian cancer v0.8 CHEK2 Arina Puzriakova gene: CHEK2 was added
gene: CHEK2 was added to Inherited breast cancer and ovarian cancer. Sources: Expert Review Green
Mode of inheritance for gene: CHEK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHEK2 were set to {Breast cancer, susceptibility to}, OMIM:114480
Inherited breast cancer and ovarian cancer v0.8 ATM Arina Puzriakova gene: ATM was added
gene: ATM was added to Inherited breast cancer and ovarian cancer. Sources: Expert Review Green
Mode of inheritance for gene: ATM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATM were set to {Breast cancer, susceptibility to}, OMIM:114480
Hereditary haemorrhagic telangiectasia v2.15 GDF2 Ivone Leong commented on gene: GDF2
Hereditary haemorrhagic telangiectasia v2.14 GDF2 Ivone Leong Source Expert Review Green was added to GDF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v1.67 TMEM126B Ivone Leong commented on gene: TMEM126B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 SURF1 Ivone Leong commented on gene: SURF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 SGCD Ivone Leong commented on gene: SGCD: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 SDHD Ivone Leong commented on gene: SDHD: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 SDHA Ivone Leong commented on gene: SDHA: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 SDHAF1 Ivone Leong commented on gene: SDHAF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 PNPLA2 Ivone Leong commented on gene: PNPLA2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NUBPL Ivone Leong commented on gene: NUBPL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NF1 Ivone Leong commented on gene: NF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFV1 Ivone Leong commented on gene: NDUFV1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFS7 Ivone Leong commented on gene: NDUFS7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFS6 Ivone Leong commented on gene: NDUFS6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFS4 Ivone Leong commented on gene: NDUFS4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFS3 Ivone Leong commented on gene: NDUFS3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFS1 Ivone Leong commented on gene: NDUFS1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFB3 Ivone Leong commented on gene: NDUFB3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFAF5 Ivone Leong commented on gene: NDUFAF5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFAF4 Ivone Leong commented on gene: NDUFAF4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFAF3 Ivone Leong commented on gene: NDUFAF3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFAF2 Ivone Leong commented on gene: NDUFAF2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFA10 Ivone Leong commented on gene: NDUFA10: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFA1 Ivone Leong commented on gene: NDUFA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 LRPPRC Ivone Leong commented on gene: LRPPRC: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 IDS Ivone Leong commented on gene: IDS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 HCN4 Ivone Leong commented on gene: HCN4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 GLB1 Ivone Leong commented on gene: GLB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 FAH Ivone Leong commented on gene: FAH: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 COX20 Ivone Leong commented on gene: COX20: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 CBL Ivone Leong commented on gene: CBL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 BRAF Ivone Leong commented on gene: BRAF: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 ATPAF2 Ivone Leong commented on gene: ATPAF2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 ATP5D Ivone Leong commented on gene: ATP5D: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 ARSB Ivone Leong commented on gene: ARSB: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 AGL Ivone Leong commented on gene: AGL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.66 TMEM126B Ivone Leong Source Expert Review Amber was added to TMEM126B.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 SURF1 Ivone Leong Source Expert Review Amber was added to SURF1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 SGCD Ivone Leong Source Expert Review Amber was added to SGCD.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 SDHD Ivone Leong Source Expert Review Amber was added to SDHD.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 SDHA Ivone Leong Source Expert Review Amber was added to SDHA.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 SDHAF1 Ivone Leong Source Expert Review Amber was added to SDHAF1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 PNPLA2 Ivone Leong Source Expert Review Amber was added to PNPLA2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NUBPL Ivone Leong Source Expert Review Amber was added to NUBPL.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NF1 Ivone Leong Source Expert Review Amber was added to NF1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFV1 Ivone Leong Source Expert Review Amber was added to NDUFV1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFS7 Ivone Leong Source Expert Review Amber was added to NDUFS7.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFS6 Ivone Leong Source Expert Review Amber was added to NDUFS6.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFS4 Ivone Leong Source Expert Review Amber was added to NDUFS4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFS3 Ivone Leong Source Expert Review Amber was added to NDUFS3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFS1 Ivone Leong Source Expert Review Amber was added to NDUFS1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFB3 Ivone Leong Source Expert Review Amber was added to NDUFB3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFAF5 Ivone Leong Source Expert Review Amber was added to NDUFAF5.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFAF4 Ivone Leong Source Expert Review Amber was added to NDUFAF4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFAF3 Ivone Leong Source Expert Review Amber was added to NDUFAF3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFAF2 Ivone Leong Source Expert Review Amber was added to NDUFAF2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFA10 Ivone Leong Source Expert Review Amber was added to NDUFA10.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFA1 Ivone Leong Source Expert Review Amber was added to NDUFA1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 LRPPRC Ivone Leong Source Expert Review Amber was added to LRPPRC.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 IDS Ivone Leong Source Expert Review Amber was added to IDS.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 HCN4 Ivone Leong Source Expert Review Amber was added to HCN4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 GLB1 Ivone Leong Source Expert Review Amber was added to GLB1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 FAH Ivone Leong Source Expert Review Amber was added to FAH.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 COX20 Ivone Leong Source Expert Review Amber was added to COX20.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 CBL Ivone Leong Source Expert Review Amber was added to CBL.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 BRAF Ivone Leong Source Expert Review Amber was added to BRAF.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 ATPAF2 Ivone Leong Source Expert Review Amber was added to ATPAF2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 ATP5D Ivone Leong Source Expert Review Amber was added to ATP5D.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 ARSB Ivone Leong Source Expert Review Amber was added to ARSB.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 AGL Ivone Leong Source Expert Review Amber was added to AGL.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Pulmonary arterial hypertension v2.18 KDR Ivone Leong Tag Q2_21_rating was removed from gene: KDR.
Pulmonary arterial hypertension v2.18 KDR Ivone Leong commented on gene: KDR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Pulmonary arterial hypertension v2.17 KDR Ivone Leong Source Expert Review Green was added to KDR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal ciliopathies v1.59 IFT140 Eleanor Williams Tag Q4_21_MOI was removed from gene: IFT140.
Tag Q4_21_NHS_review was removed from gene: IFT140.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 CFAP54 Ivone Leong Tag for-review was removed from gene: CFAP54.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 CFAP46 Ivone Leong Tag for-review was removed from gene: CFAP46.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 DNAJB13 Ivone Leong Tag for-review was removed from gene: DNAJB13.
Tag watchlist tag was added to gene: DNAJB13.
Renal ciliopathies v1.59 IFT140 Eleanor Williams commented on gene: IFT140: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 DNAJB13 Ivone Leong changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 DNAJB13 Ivone Leong changed review comment from: Submitted on behalf of NHS GMS "One study only, requires more research for inlcusion into diagnostic test. Amber genes can be included in panel designs for this research."; to: Submitted on behalf of NHS GMS "One study only, requires more research for inlcusion into diagnostic test. Amber genes can be included in panel designs for this research."
Renal ciliopathies v1.58 IFT140 Eleanor Williams Mode of inheritance for gene IFT140 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v1.55 FOXJ1 Ivone Leong Tag for-review was removed from gene: FOXJ1.
Tag watchlist tag was added to gene: FOXJ1.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 FOXJ1 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 OFD1 Ivone Leong Tag for-review was removed from gene: OFD1.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 TTC12 Ivone Leong Tag for-review was removed from gene: TTC12.
Tag watchlist tag was added to gene: TTC12.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 TTC12 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 NEK10 Ivone Leong Tag for-review was removed from gene: NEK10.
Tag watchlist tag was added to gene: NEK10.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 NEK10 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 GAS2L2 Ivone Leong Tag for-review was removed from gene: GAS2L2.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 GAS2L2 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 RPGR Ivone Leong Tag for-review was removed from gene: RPGR.
Ectodermal dysplasia v1.35 SNRPE Arina Puzriakova Tag Q2_21_rating was removed from gene: SNRPE.
Tag Q2_21_NHS_review was removed from gene: SNRPE.
Ectodermal dysplasia v1.35 AXIN2 Arina Puzriakova Tag Q4_21_expert_review was removed from gene: AXIN2.
Tag Q4_21_NHS_review was removed from gene: AXIN2.
Ectodermal dysplasia v1.35 SNRPE Arina Puzriakova commented on gene: SNRPE: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Ectodermal dysplasia v1.35 AXIN2 Arina Puzriakova commented on gene: AXIN2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Ectodermal dysplasia v1.34 SNRPE Arina Puzriakova Source Expert Review Green was added to SNRPE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ectodermal dysplasia v1.34 AXIN2 Arina Puzriakova Source Expert Review Green was added to AXIN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.55 CFAP54 Ivone Leong commented on gene: CFAP54: Submitted on behalf of NHS GMS "We have been sequencing this gene for the past 2-3 years and have not yet found a clearly pathogenic variant. A number of truncating variants were identified in CFAP54 in the 100K project, but in patients with diagnoses other than PCD and loss of function does not appear to be a disease mechanism for this gene."
Respiratory ciliopathies including non-CF bronchiectasis v1.55 CFAP46 Ivone Leong commented on gene: CFAP46: Submitted on behalf of NHS GMS "We have been sequencing this gene for the past 2-3 years and have not yet found a clearly pathogenic variant in any PCD patients."
Respiratory ciliopathies including non-CF bronchiectasis v1.55 DNAJB13 Ivone Leong commented on gene: DNAJB13: Submitted on behalf of NHS GMS "One study only, requires more research for inlcusion into diagnostic test. Amber genes can be included in panel designs for this research."
Respiratory ciliopathies including non-CF bronchiectasis v1.55 TTC12 Ivone Leong commented on gene: TTC12: Submitted on behalf of NHS GMS "Only 6 variants in HGMD, all from the one study Thomas et al. Again as in NKE10 its not clear that full variant analysis has been done to ACGS standard, e.g. the homozygous variant c.1700T>G being described as pathogenic appear to be based on PM2 but has low frequency in gnomad and parents are related, PP3, PM1 (tricky to use in a new assocaited gene), and PS3 for study showing reduced TTC12. There is clearly strong evidence in this particular study but would argue that its too soon for inclusion in a diagnostic panel, but warrants further study. Amber genes can be included in panel designs for this research."
Respiratory ciliopathies including non-CF bronchiectasis v1.55 NEK10 Ivone Leong commented on gene: NEK10: Submitted on behalf of NHS GMS "Evidence is from one study, and is not clear that full variant analysis has been done on the variants, e.g. the homozygous missense c.2243C>T described as pathogenic based on PM2, conserved amino acid and familial segregation but according to the relevant pedigree for kindred 3 (extended data fig 1 g) there are only 2 affected individuals, one of which is the proband, and this is in a consanguineous family, we would not classify this as pathogenic according to ACGS criteria. Limited varaints reported in HGMD. As above, this gene would warrant further research but too soon for inclusion on routine diagnostic testing. Amber genes can be included in panel designs for this research."
Respiratory ciliopathies including non-CF bronchiectasis v1.55 GAS2L2 Ivone Leong commented on gene: GAS2L2: Submitted on behalf of NHS GMS "There is limited evidence. Quoted study has not done detailed familial segregation, only 2 unrelated individuals, but each had a variant in common. I do not see that we will be able to classify variants as pathogenic without further evidence. Only 8 variants in HGMD, 6 of uncertain significancen and 2 pathogenic (both from Bustamante-Marin). This gene would benefit from further research, it may be too early to be used diagnostically. Amber genes can be included in panel designs for this research."
Respiratory ciliopathies including non-CF bronchiectasis v1.55 CFAP54 Ivone Leong commented on gene: CFAP54: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 CFAP46 Ivone Leong commented on gene: CFAP46: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 DNAJB13 Ivone Leong commented on gene: DNAJB13: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 FOXJ1 Ivone Leong commented on gene: FOXJ1: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 OFD1 Ivone Leong commented on gene: OFD1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 TTC12 Ivone Leong commented on gene: TTC12: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 NEK10 Ivone Leong commented on gene: NEK10: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 GAS2L2 Ivone Leong commented on gene: GAS2L2
Respiratory ciliopathies including non-CF bronchiectasis v1.55 RPGR Ivone Leong commented on gene: RPGR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Respiratory ciliopathies including non-CF bronchiectasis v1.54 CFAP54 Ivone Leong Source Expert Review Red was added to CFAP54.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.54 CFAP46 Ivone Leong Source Expert Review Red was added to CFAP46.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.54 DNAJB13 Ivone Leong Source Expert Review Amber was added to DNAJB13.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.54 OFD1 Ivone Leong Source Expert Review Green was added to OFD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.54 RPGR Ivone Leong Source Expert Review Green was added to RPGR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Laterality disorders and isomerism v1.47 MNS1 Ivone Leong Tag watchlist tag was added to gene: MNS1.
Laterality disorders and isomerism v1.47 MNS1 Ivone Leong Tag for-review was removed from gene: MNS1.
Laterality disorders and isomerism v1.47 MNS1 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. Limited evidence, two studies, would prefer more evidence for upgrading to green.; to: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Laterality disorders and isomerism v1.47 FOXJ1 Ivone Leong Tag for-review was removed from gene: FOXJ1.
Laterality disorders and isomerism v1.47 PKD1L1 Ivone Leong Tag for-review was removed from gene: PKD1L1.
Laterality disorders and isomerism v1.47 MNS1 Ivone Leong commented on gene: MNS1: Submitted on behalf of NHS GMS "Limited evidence, two studies, would prefer more evidence for upgrading to green."
Laterality disorders and isomerism v1.47 MNS1 Ivone Leong commented on gene: MNS1: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. Limited evidence, two studies, would prefer more evidence for upgrading to green.
Laterality disorders and isomerism v1.47 FOXJ1 Ivone Leong commented on gene: FOXJ1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Laterality disorders and isomerism v1.47 PKD1L1 Ivone Leong commented on gene: PKD1L1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Laterality disorders and isomerism v1.46 FOXJ1 Ivone Leong Source Expert Review Green was added to FOXJ1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Laterality disorders and isomerism v1.46 PKD1L1 Ivone Leong Source Expert Review Green was added to PKD1L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary haemorrhagic telangiectasia v2.13 RASA1 Ivone Leong Tag for-review was removed from gene: RASA1.
Hereditary haemorrhagic telangiectasia v2.13 RASA1 Ivone Leong commented on gene: RASA1
Hereditary haemorrhagic telangiectasia v2.12 RASA1 Ivone Leong Source Expert Review Green was added to RASA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 ZNFX1 Arina Puzriakova Tag Q2_21_rating was removed from gene: ZNFX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 SYK Arina Puzriakova Tag Q2_21_rating was removed from gene: SYK.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 SASH3 Arina Puzriakova Tag Q2_21_rating was removed from gene: SASH3.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 PLG Arina Puzriakova Tag Q2_21_NHS_review was removed from gene: PLG.
Tag Q3_21_expert_review was removed from gene: PLG.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 PI4KA Arina Puzriakova Tag Q3_21_rating was removed from gene: PI4KA.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 MPEG1 Arina Puzriakova Tag Q2_21_rating was removed from gene: MPEG1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 KMT2D Arina Puzriakova Tag Q3_21_rating was removed from gene: KMT2D.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 KMT2A Arina Puzriakova Tag Q3_21_rating was removed from gene: KMT2A.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 KDM6A Arina Puzriakova Tag Q3_21_expert_review was removed from gene: KDM6A.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 IPO8 Arina Puzriakova Tag Q3_21_expert_review was removed from gene: IPO8.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 IKZF3 Arina Puzriakova Tag Q4_21_rating was removed from gene: IKZF3.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 ELF4 Arina Puzriakova Tag Q3_21_rating was removed from gene: ELF4.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 DEF6 Arina Puzriakova Tag Q4_21_rating was removed from gene: DEF6.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 CLPB Arina Puzriakova Tag Q4_21_MOI was removed from gene: CLPB.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 ZNFX1 Arina Puzriakova commented on gene: ZNFX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 SYK Arina Puzriakova commented on gene: SYK: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 SASH3 Arina Puzriakova commented on gene: SASH3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 PLG Arina Puzriakova commented on gene: PLG: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 PI4KA Arina Puzriakova commented on gene: PI4KA
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 MPEG1 Arina Puzriakova commented on gene: MPEG1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 KMT2D Arina Puzriakova commented on gene: KMT2D: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 KMT2A Arina Puzriakova commented on gene: KMT2A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 KDM6A Arina Puzriakova commented on gene: KDM6A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 IPO8 Arina Puzriakova commented on gene: IPO8
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 IKZF3 Arina Puzriakova commented on gene: IKZF3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 ELF4 Arina Puzriakova commented on gene: ELF4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 DEF6 Arina Puzriakova commented on gene: DEF6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 CLPB Arina Puzriakova commented on gene: CLPB: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 ZNFX1 Arina Puzriakova Source Expert Review Green was added to ZNFX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 SYK Arina Puzriakova Source Expert Review Green was added to SYK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 SASH3 Arina Puzriakova Source Expert Review Green was added to SASH3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 PLG Arina Puzriakova Source Expert Review Green was added to PLG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 PI4KA Arina Puzriakova Source Expert Review Green was added to PI4KA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 MPEG1 Arina Puzriakova Source Expert Review Green was added to MPEG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 KMT2D Arina Puzriakova Source Expert Review Green was added to KMT2D.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 KMT2A Arina Puzriakova Source Expert Review Green was added to KMT2A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal ciliopathies v1.57 CENPF Eleanor Williams Tag for-review was removed from gene: CENPF.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 KDM6A Arina Puzriakova Source Expert Review Green was added to KDM6A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 IKZF3 Arina Puzriakova Source Expert Review Green was added to IKZF3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 ELF4 Arina Puzriakova Source Expert Review Green was added to ELF4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 DEF6 Arina Puzriakova Source Expert Review Green was added to DEF6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 CLPB Arina Puzriakova Mode of inheritance for gene CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v1.115 TEK Ivone Leong Tag Q2_21_rating was removed from gene: TEK.
Structural eye disease v1.115 OCRL Ivone Leong Tag Q2_21_rating was removed from gene: OCRL.
Structural eye disease v1.115 LMX1B Ivone Leong Tag Q2_21_rating was removed from gene: LMX1B.
Structural eye disease v1.115 IFIH1 Ivone Leong Tag Q2_21_rating was removed from gene: IFIH1.
Structural eye disease v1.115 CREBBP Ivone Leong Tag Q2_21_rating was removed from gene: CREBBP.
Tag Q1_22_NHS_review was removed from gene: CREBBP.
Structural eye disease v1.115 ASPH Ivone Leong Tag Q3_21_rating was removed from gene: ASPH.
Tag Q3_21_NHS_review was removed from gene: ASPH.
Structural eye disease v1.115 TEK Ivone Leong commented on gene: TEK: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.115 OCRL Ivone Leong commented on gene: OCRL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.115 LMX1B Ivone Leong commented on gene: LMX1B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.115 IFIH1 Ivone Leong commented on gene: IFIH1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.115 CREBBP Ivone Leong commented on gene: CREBBP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.115 ASPH Ivone Leong commented on gene: ASPH: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.114 TEK Ivone Leong Source Expert Review Green was added to TEK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.114 OCRL Ivone Leong Source Expert Review Green was added to OCRL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.114 LMX1B Ivone Leong Source Expert Review Green was added to LMX1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.114 IFIH1 Ivone Leong Source Expert Review Green was added to IFIH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.114 CREBBP Ivone Leong Source Expert Review Green was added to CREBBP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.114 ASPH Ivone Leong Source Expert Review Green was added to ASPH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thrombophilia with a likely monogenic cause v1.22 ADAMTS13 Arina Puzriakova Tag Q2_21_NHS_review was removed from gene: ADAMTS13.
Tag Q2_21_MOI was removed from gene: ADAMTS13.
Thrombophilia with a likely monogenic cause v1.22 ADAMTS13 Arina Puzriakova commented on gene: ADAMTS13: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Thrombophilia with a likely monogenic cause v1.21 ADAMTS13 Arina Puzriakova Mode of inheritance for gene ADAMTS13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies v1.57 DHCR7 Eleanor Williams Phenotypes for gene: DHCR7 were changed from Smith-Lemli-Opitz syndrome 270400 to Smith-Lemli-Opitz syndrome, OMIM:270400
Renal ciliopathies v1.56 DHCR7 Eleanor Williams Tag for-review was removed from gene: DHCR7.
Renal ciliopathies v1.56 CENPF Eleanor Williams Phenotypes for gene: CENPF were changed from Stromme syndrome, 243605; Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome to Stromme syndrome, OMIM:243605; Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Retinal disorders v2.245 ZFYVE26 Ivone Leong Tag Q2_21_rating was removed from gene: ZFYVE26.
Bleeding and platelet disorders v1.35 TNXB Arina Puzriakova Tag Q3_21_NHS_review was removed from gene: TNXB.
Tag Q3_21_expert_review was removed from gene: TNXB.
Retinal disorders v2.245 UNC119 Ivone Leong Tag Q2_21_rating was removed from gene: UNC119.
Retinal disorders v2.245 TUBB4B Ivone Leong Tag Q2_21_rating was removed from gene: TUBB4B.
Bleeding and platelet disorders v1.35 COL3A1 Arina Puzriakova Tag Q3_21_NHS_review was removed from gene: COL3A1.
Tag Q3_21_expert_review was removed from gene: COL3A1.
Retinal disorders v2.245 TMEM218 Ivone Leong Tag Q4_21_rating was removed from gene: TMEM218.
Tag Q4_21_NHS_review was removed from gene: TMEM218.
Renal ciliopathies v1.55 ARMC9 Eleanor Williams Phenotypes for gene: ARMC9 were changed from Joubert syndrome 30, 617622 to Joubert syndrome 30, OMIM:617622
Retinal disorders v2.245 TMEM218 Ivone Leong Deleted their comment
Retinal disorders v2.245 MED12 Ivone Leong Tag Q3_21_MOI was removed from gene: MED12.
Tag Q3_21_rating was removed from gene: MED12.
Tag Q3_21_expert_review was removed from gene: MED12.
Renal ciliopathies v1.54 ARMC9 Eleanor Williams Tag for-review was removed from gene: ARMC9.
Bleeding and platelet disorders v1.35 ADAMTS13 Arina Puzriakova Tag Q2_21_expert_review was removed from gene: ADAMTS13.
Tag Q2_21_NHS_review was removed from gene: ADAMTS13.
Tag Q2_21_MOI was removed from gene: ADAMTS13.
Renal ciliopathies v1.54 ALMS1 Eleanor Williams Phenotypes for gene: ALMS1 were changed from Alstrom Syndrome; Bardet-Biedl Syndrome; 203800; Alstrom syndrome to Bardet-Biedl Syndrome; Alstrom syndrome, OMIM:203800
Retinal disorders v2.245 IMPG1 Ivone Leong Tag Q3_21_MOI was removed from gene: IMPG1.
Bleeding and platelet disorders v1.35 TNXB Arina Puzriakova commented on gene: TNXB: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that this gene should be green.
Bleeding and platelet disorders v1.35 COL3A1 Arina Puzriakova commented on gene: COL3A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that this gene should be green.
Bleeding and platelet disorders v1.35 ADAMTS13 Arina Puzriakova edited their review of gene: ADAMTS13: Added comment: The rating and mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.; Changed rating: RED
Bleeding and platelet disorders v1.34 TNXB Arina Puzriakova Source Expert Review Green was added to TNXB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bleeding and platelet disorders v1.34 COL3A1 Arina Puzriakova Source Expert Review Green was added to COL3A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bleeding and platelet disorders v1.34 ADAMTS13 Arina Puzriakova Source Expert Review Red was added to ADAMTS13.
Mode of inheritance for gene ADAMTS13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Rating Changed from Green List (high evidence) to Red List (low evidence)
Retinal disorders v2.245 IMPG1 Ivone Leong changed review comment from: The mode of inheritance of this gene has been updated followingNHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Renal ciliopathies v1.53 ALMS1 Eleanor Williams Tag for-review was removed from gene: ALMS1.
Retinal disorders v2.245 FAM57B Ivone Leong Tag Q2_21_rating was removed from gene: FAM57B.
Renal ciliopathies v1.53 ICK Eleanor Williams Tag for-review was removed from gene: ICK.
Retinal disorders v2.245 ARL3 Ivone Leong Tag Q4_21_rating was removed from gene: ARL3.
Retinal disorders v2.245 AMACR Ivone Leong Tag Q2_21_rating was removed from gene: AMACR.
Tag Q2_21_NHS_review was removed from gene: AMACR.
Retinal disorders v2.245 AMACR Ivone Leong Deleted their comment
Retinal disorders v2.245 AMACR Ivone Leong changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 ALDH3A2 Ivone Leong Tag Q3_21_rating was removed from gene: ALDH3A2.
Renal ciliopathies v1.53 DLG5 Eleanor Williams Tag for-review was removed from gene: DLG5.
Retinal disorders v2.245 ALDH3A2 Ivone Leong Deleted their comment
Retinal disorders v2.245 ACBD5 Ivone Leong Tag Q2_21_rating was removed from gene: ACBD5.
Renal ciliopathies v1.53 IFT140 Eleanor Williams Tag for-review was removed from gene: IFT140.
Renal ciliopathies v1.53 IFT27 Eleanor Williams Phenotypes for gene: IFT27 were changed from ?Bardet-Biedl syndrome 19, 615996 to ?Bardet-Biedl syndrome 19, OMIM:615996
Renal ciliopathies v1.52 IFT27 Eleanor Williams Tag for-review was removed from gene: IFT27.
Renal ciliopathies v1.52 IFT172 Eleanor Williams Phenotypes for gene: IFT172 were changed from Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 to Short-rib thoracic dysplasia 10 with or without polydactyly, OMIM:615630
Renal ciliopathies v1.51 IFT172 Eleanor Williams Tag for-review was removed from gene: IFT172.
Renal ciliopathies v1.51 DHCR7 Eleanor Williams commented on gene: DHCR7: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Renal ciliopathies v1.51 CENPF Eleanor Williams commented on gene: CENPF: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Renal ciliopathies v1.51 ARMC9 Eleanor Williams commented on gene: ARMC9: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Renal ciliopathies v1.51 ALMS1 Eleanor Williams commented on gene: ALMS1: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Renal ciliopathies v1.51 ICK Eleanor Williams commented on gene: ICK: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Renal ciliopathies v1.51 DLG5 Eleanor Williams commented on gene: DLG5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Renal ciliopathies v1.51 IFT140 Eleanor Williams commented on gene: IFT140: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Renal ciliopathies v1.51 IFT27 Eleanor Williams commented on gene: IFT27: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Renal ciliopathies v1.51 IFT172 Eleanor Williams commented on gene: IFT172
Retinal disorders v2.245 ZFYVE26 Ivone Leong commented on gene: ZFYVE26: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 UNC119 Ivone Leong commented on gene: UNC119: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 TUBB4B Ivone Leong commented on gene: TUBB4B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 TMEM218 Ivone Leong commented on gene: TMEM218: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 TMEM218 Ivone Leong commented on gene: TMEM218: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 MED12 Ivone Leong commented on gene: MED12
Retinal disorders v2.245 IMPG1 Ivone Leong commented on gene: IMPG1
Retinal disorders v2.245 FAM57B Ivone Leong commented on gene: FAM57B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 ARL3 Ivone Leong commented on gene: ARL3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 AMACR Ivone Leong commented on gene: AMACR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 AMACR Ivone Leong commented on gene: AMACR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 ALDH3A2 Ivone Leong commented on gene: ALDH3A2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.245 ALDH3A2 Ivone Leong commented on gene: ALDH3A2
Retinal disorders v2.245 ACBD5 Ivone Leong commented on gene: ACBD5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.244 ZFYVE26 Ivone Leong Source Expert Review Green was added to ZFYVE26.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.244 UNC119 Ivone Leong Source Expert Review Green was added to UNC119.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.244 TUBB4B Ivone Leong Source Expert Review Green was added to TUBB4B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.244 TMEM218 Ivone Leong Source Expert Review Green was added to TMEM218.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.244 MED12 Ivone Leong Source Expert Review Green was added to MED12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.244 IMPG1 Ivone Leong Mode of inheritance for gene IMPG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v2.244 FAM57B Ivone Leong Source Expert Review Green was added to FAM57B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.244 ARL3 Ivone Leong Source Expert Review Green was added to ARL3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.244 AMACR Ivone Leong Source Expert Review Green was added to AMACR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.244 ALDH3A2 Ivone Leong Source Expert Review Green was added to ALDH3A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.244 ACBD5 Ivone Leong Source Expert Review Green was added to ACBD5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal ciliopathies v1.50 ARMC9 Eleanor Williams Source Expert Review Red was added to ARMC9.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Renal ciliopathies v1.50 DLG5 Eleanor Williams Source Expert Review Green was added to DLG5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal ciliopathies v1.50 IFT140 Eleanor Williams Source Expert Review Green was added to IFT140.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal ciliopathies v1.50 IFT27 Eleanor Williams Source Expert Review Green was added to IFT27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal ciliopathies v1.50 IFT172 Eleanor Williams Source Expert Review Green was added to IFT172.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Optic neuropathy v2.60 ALPK1 Ivone Leong Tag Q4_21_rating was removed from gene: ALPK1.
Tag Q4_21_NHS_review was removed from gene: ALPK1.
Optic neuropathy v2.60 ALPK1 Ivone Leong commented on gene: ALPK1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Optic neuropathy v2.59 ALPK1 Ivone Leong Source Expert Review Green was added to ALPK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ophthalmological ciliopathies v1.29 TMEM218 Ivone Leong Tag Q4_21_rating was removed from gene: TMEM218.
Tag Q4_21_NHS_review was removed from gene: TMEM218.
Ophthalmological ciliopathies v1.29 TMEM218 Ivone Leong commented on gene: TMEM218: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Ophthalmological ciliopathies v1.28 TMEM218 Ivone Leong Source Expert Review Green was added to TMEM218.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.838 PRRX1 Arina Puzriakova Tag Q4_21_rating was removed from gene: PRRX1.
Fetal anomalies v1.838 PHF6 Arina Puzriakova Tag Q4_21_MOI was removed from gene: PHF6.
Fetal anomalies v1.838 PRRX1 Arina Puzriakova commented on gene: PRRX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.838 PHF6 Arina Puzriakova commented on gene: PHF6
Fetal anomalies v1.837 PRRX1 Arina Puzriakova Source Expert Review Green was added to PRRX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.837 PHF6 Arina Puzriakova Mode of inheritance for gene PHF6 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Bilateral congenital or childhood onset cataracts v2.100 FAR1 Ivone Leong Tag Q2_21_rating was removed from gene: FAR1.
Bilateral congenital or childhood onset cataracts v2.100 MED27 Ivone Leong Tag Q2_21_rating was removed from gene: MED27.
Bilateral congenital or childhood onset cataracts v2.100 MED27 Ivone Leong commented on gene: MED27
Bilateral congenital or childhood onset cataracts v2.100 FAR1 Ivone Leong commented on gene: FAR1
Bilateral congenital or childhood onset cataracts v2.99 MED27 Ivone Leong Source Expert Review Green was added to MED27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.99 FAR1 Ivone Leong Source Expert Review Green was added to FAR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.113 CDH2 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Structural eye disease v1.113 CDH2 Ivone Leong Tag for-review was removed from gene: CDH2.
Structural eye disease v1.113 NF2 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Structural eye disease v1.113 NF2 Ivone Leong Tag for-review was removed from gene: NF2.
Structural eye disease v1.113 DYRK1A Ivone Leong Tag for-review was removed from gene: DYRK1A.
Tag Q1_22_NHS_review was removed from gene: DYRK1A.
Structural eye disease v1.113 WDR37 Ivone Leong Tag for-review was removed from gene: WDR37.
Tag Q1_22_NHS_review was removed from gene: WDR37.
Structural eye disease v1.113 CDON Ivone Leong Tag for-review was removed from gene: CDON.
Tag Q1_22_NHS_review was removed from gene: CDON.
Structural eye disease v1.113 FZD5 Ivone Leong Tag for-review was removed from gene: FZD5.
Tag Q1_22_NHS_review was removed from gene: FZD5.
Structural eye disease v1.113 CAPN15 Ivone Leong Tag for-review was removed from gene: CAPN15.
Tag Q1_22_NHS_review was removed from gene: CAPN15.
Structural eye disease v1.113 CENPF Ivone Leong Tag for-review was removed from gene: CENPF.
Tag Q1_22_NHS_review was removed from gene: CENPF.
Structural eye disease v1.113 CRYBB1 Ivone Leong Tag for-review was removed from gene: CRYBB1.
Tag Q1_22_NHS_review was removed from gene: CRYBB1.
Structural eye disease v1.113 CDH2 Ivone Leong commented on gene: CDH2
Structural eye disease v1.113 NF2 Ivone Leong commented on gene: NF2: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Structural eye disease v1.113 DYRK1A Ivone Leong commented on gene: DYRK1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.113 WDR37 Ivone Leong commented on gene: WDR37: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.113 CDON Ivone Leong commented on gene: CDON: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.113 FZD5 Ivone Leong commented on gene: FZD5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.113 CAPN15 Ivone Leong commented on gene: CAPN15
Structural eye disease v1.113 CENPF Ivone Leong commented on gene: CENPF: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.113 CRYBB1 Ivone Leong commented on gene: CRYBB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Structural eye disease v1.112 DYRK1A Ivone Leong Source Expert Review Green was added to DYRK1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.112 WDR37 Ivone Leong Source Expert Review Green was added to WDR37.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.112 CDON Ivone Leong Source Expert Review Green was added to CDON.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.112 FZD5 Ivone Leong Source Expert Review Green was added to FZD5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.112 CAPN15 Ivone Leong Source Expert Review Green was added to CAPN15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.112 CENPF Ivone Leong Source Expert Review Green was added to CENPF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.112 CRYBB1 Ivone Leong Source Expert Review Green was added to CRYBB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Multiple monogenic benign skin tumours v1.20 PDGFRB Arina Puzriakova Tag Q4_21_expert_review was removed from gene: PDGFRB.
Tag Q4_21_rating was removed from gene: PDGFRB.
Tag Q4_21_phenotype was removed from gene: PDGFRB.
Tag Q4_21_NHS_review was removed from gene: PDGFRB.
Retinal disorders v2.243 GRN Ivone Leong Tag for-review was removed from gene: GRN.
Retinal disorders v2.243 P3H2 Ivone Leong Tag for-review was removed from gene: P3H2.
Tag deletions tag was added to gene: P3H2.
Retinal disorders v2.243 MSTO1 Ivone Leong Tag for-review was removed from gene: MSTO1.
Retinal disorders v2.243 SSBP1 Ivone Leong Tag for-review was removed from gene: SSBP1.
Retinal disorders v2.243 HK1 Ivone Leong Tag for-review was removed from gene: HK1.
Retinal disorders v2.243 HK1 Ivone Leong changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.Amber or keep as green - dominant missense variant p.(Glu847Lys) reported many times in the literature. This gene is currently amber. It seems clear that the p.E847K variant is associated with retinal disease so I think that it should be green, even if retinal disease is restricted to this variant.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Multiple monogenic benign skin tumours v1.20 PDGFRB Arina Puzriakova commented on gene: PDGFRB
Retinal disorders v2.243 CA4 Ivone Leong Tag for-review was removed from gene: CA4.
Retinal disorders v2.243 HARS Ivone Leong Tag for-review was removed from gene: HARS.
Multiple monogenic benign skin tumours v1.19 PDGFRB Arina Puzriakova Source Expert Review Green was added to PDGFRB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 CIB2 Ivone Leong Tag for-review was removed from gene: CIB2.
Retinal disorders v2.243 TRIM32 Ivone Leong Tag for-review was removed from gene: TRIM32.
Retinal disorders v2.243 TUBGCP6 Ivone Leong Tag for-review was removed from gene: TUBGCP6.
Retinal disorders v2.243 PNPLA6 Ivone Leong Tag for-review was removed from gene: PNPLA6.
Retinal disorders v2.243 PLK4 Ivone Leong Tag for-review was removed from gene: PLK4.
Retinal disorders v2.243 MTTP Ivone Leong Tag for-review was removed from gene: MTTP.
Retinal disorders v2.243 LAMA1 Ivone Leong Tag for-review was removed from gene: LAMA1.
Retinal disorders v2.243 IFT27 Ivone Leong Tag for-review was removed from gene: IFT27.
Retinal disorders v2.243 IFT172 Ivone Leong Tag for-review was removed from gene: IFT172.
Retinal disorders v2.243 GNB3 Ivone Leong Tag for-review was removed from gene: GNB3.
Retinal disorders v2.243 CTNNA1 Ivone Leong Tag for-review was removed from gene: CTNNA1.
Tag Q1_22_NHS_review was removed from gene: CTNNA1.
Bilateral congenital or childhood onset cataracts v2.98 PLOD3 Ivone Leong Tag for-review was removed from gene: PLOD3.
Retinal disorders v2.243 CEP250 Ivone Leong Tag for-review was removed from gene: CEP250.
Retinal disorders v2.243 AFG3L2 Ivone Leong Tag for-review was removed from gene: AFG3L2.
Retinal disorders v2.243 ARL13B Ivone Leong Tag for-review was removed from gene: ARL13B.
Retinal disorders v2.243 MMACHC Ivone Leong Tag for-review was removed from gene: MMACHC.
Retinal disorders v2.243 IFT74 Ivone Leong Tag for-review was removed from gene: IFT74.
Retinal disorders v2.243 CTC1 Ivone Leong Tag for-review was removed from gene: CTC1.
Inherited polyposis and early onset colorectal cancer - germline testing v1.28 AXIN2 Arina Puzriakova Tag Q4_21_rating was removed from gene: AXIN2.
Inherited polyposis and early onset colorectal cancer - germline testing v1.28 AXIN2 Arina Puzriakova edited their review of gene: AXIN2: Changed rating: AMBER
Inherited polyposis and early onset colorectal cancer - germline testing v1.28 AXIN2 Arina Puzriakova commented on gene: AXIN2: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed as it was determined that there is insufficient evidence to rate as green on this panel - 'There does not seem to be strong grounds for including this gene as a green gene currently. heterozygous mutations in AXIN2 have very rarely been shown to cause ectodermal dysplasia (including tooth agenesis, or more specifically, oligodontia), and, in some carriers, colorectal cancer and/or adenomatous polyposis develops. Think including now would potentially be problematic in terms of interpretation. Very few reports even considering GEL submissions. May be better as a stand alone syndromic test? One to keep under review'
Retinal disorders v2.243 ALPK1 Ivone Leong Tag for-review was removed from gene: ALPK1.
Tag Q4_21_NHS_review was removed from gene: ALPK1.
Retinal disorders v2.243 ABCC6 Ivone Leong Tag for-review was removed from gene: ABCC6.
Retinal disorders v2.243 SLC6A6 Ivone Leong Tag for-review was removed from gene: SLC6A6.
Retinal disorders v2.243 USP45 Ivone Leong Tag for-review was removed from gene: USP45.
Retinal disorders v2.243 DRAM2 Ivone Leong Tag for-review was removed from gene: DRAM2.
Retinal disorders v2.243 TINF2 Ivone Leong Tag for-review was removed from gene: TINF2.
Retinal disorders v2.243 TMEM216 Ivone Leong Tag for-review was removed from gene: TMEM216.
Retinal disorders v2.243 ROM1 Ivone Leong Tag for-review was removed from gene: ROM1.
Retinal disorders v2.243 TUBGCP4 Ivone Leong Tag for-review was removed from gene: TUBGCP4.
Retinal disorders v2.243 TRNT1 Ivone Leong Tag for-review was removed from gene: TRNT1.
Retinal disorders v2.243 TREX1 Ivone Leong Tag for-review was removed from gene: TREX1.
Retinal disorders v2.243 PRDM13 Ivone Leong Tag for-review was removed from gene: PRDM13.
Retinal disorders v2.243 POMGNT1 Ivone Leong Tag for-review was removed from gene: POMGNT1.
Retinal disorders v2.243 PAX2 Ivone Leong Tag for-review was removed from gene: PAX2.
Retinal disorders v2.243 NEUROD1 Ivone Leong Tag for-review was removed from gene: NEUROD1.
Retinal disorders v2.243 TRAF3IP1 Ivone Leong Tag for-review was removed from gene: TRAF3IP1.
Retinal disorders v2.243 TMEM231 Ivone Leong Tag for-review was removed from gene: TMEM231.
Retinal disorders v2.243 RIMS2 Ivone Leong Tag for-review was removed from gene: RIMS2.
Retinal disorders v2.243 PEX6 Ivone Leong Tag for-review was removed from gene: PEX6.
Retinal disorders v2.243 HK1 Ivone Leong commented on gene: HK1: Submitted on behalf of NHS GMS "Amber or keep as green - dominant missense variant p.(Glu847Lys) reported many times in the literature." and "This gene is currently amber. It seems clear that the p.E847K variant is associated with retinal disease so I think that it should be green, even if retinal disease is restricted to this variant."
Retinal disorders v2.243 P3H2 Ivone Leong commented on gene: P3H2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 MSTO1 Ivone Leong commented on gene: MSTO1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 SSBP1 Ivone Leong commented on gene: SSBP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 HK1 Ivone Leong commented on gene: HK1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.Amber or keep as green - dominant missense variant p.(Glu847Lys) reported many times in the literature. This gene is currently amber. It seems clear that the p.E847K variant is associated with retinal disease so I think that it should be green, even if retinal disease is restricted to this variant.
Retinal disorders v2.243 CA4 Ivone Leong commented on gene: CA4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 HARS Ivone Leong commented on gene: HARS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 CIB2 Ivone Leong commented on gene: CIB2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 TRIM32 Ivone Leong commented on gene: TRIM32: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 TUBGCP6 Ivone Leong commented on gene: TUBGCP6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 PNPLA6 Ivone Leong commented on gene: PNPLA6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 PLK4 Ivone Leong commented on gene: PLK4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 MTTP Ivone Leong commented on gene: MTTP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 LAMA1 Ivone Leong commented on gene: LAMA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 IFT27 Ivone Leong commented on gene: IFT27: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 IFT172 Ivone Leong commented on gene: IFT172: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 GRN Ivone Leong commented on gene: GRN: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 GNB3 Ivone Leong commented on gene: GNB3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 CTNNA1 Ivone Leong commented on gene: CTNNA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 CEP250 Ivone Leong commented on gene: CEP250: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 ARL13B Ivone Leong commented on gene: ARL13B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 AFG3L2 Ivone Leong commented on gene: AFG3L2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 MMACHC Ivone Leong commented on gene: MMACHC: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 IFT74 Ivone Leong commented on gene: IFT74: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 CTC1 Ivone Leong commented on gene: CTC1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 ALPK1 Ivone Leong commented on gene: ALPK1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 ABCC6 Ivone Leong commented on gene: ABCC6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 SLC6A6 Ivone Leong commented on gene: SLC6A6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 USP45 Ivone Leong commented on gene: USP45: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 DRAM2 Ivone Leong commented on gene: DRAM2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 TINF2 Ivone Leong commented on gene: TINF2
Retinal disorders v2.243 TMEM216 Ivone Leong commented on gene: TMEM216: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 ROM1 Ivone Leong commented on gene: ROM1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 TUBGCP4 Ivone Leong commented on gene: TUBGCP4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 TRNT1 Ivone Leong commented on gene: TRNT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 TREX1 Ivone Leong commented on gene: TREX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 PRDM13 Ivone Leong commented on gene: PRDM13: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 POMGNT1 Ivone Leong commented on gene: POMGNT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 PAX2 Ivone Leong commented on gene: PAX2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 NEUROD1 Ivone Leong commented on gene: NEUROD1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 TRAF3IP1 Ivone Leong commented on gene: TRAF3IP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 TMEM231 Ivone Leong commented on gene: TMEM231: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 RIMS2 Ivone Leong commented on gene: RIMS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 PEX6 Ivone Leong commented on gene: PEX6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 P3H2 Ivone Leong Source Expert Review Green was added to P3H2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 MSTO1 Ivone Leong Source Expert Review Green was added to MSTO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 SSBP1 Ivone Leong Source Expert Review Green was added to SSBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 HK1 Ivone Leong Source Expert Review Green was added to HK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 CA4 Ivone Leong Source Expert Review Red was added to CA4.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Retinal disorders v2.243 HARS Ivone Leong Source Expert Review Red was added to HARS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Retinal disorders v2.243 CIB2 Ivone Leong Source Expert Review Red was added to CIB2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Retinal disorders v2.243 TRIM32 Ivone Leong Source Expert Review Red was added to TRIM32.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Retinal disorders v2.243 TUBGCP6 Ivone Leong Source Expert Review Green was added to TUBGCP6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 PNPLA6 Ivone Leong Source Expert Review Green was added to PNPLA6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 PLK4 Ivone Leong Source Expert Review Green was added to PLK4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 MTTP Ivone Leong Source Expert Review Green was added to MTTP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 LAMA1 Ivone Leong Source Expert Review Green was added to LAMA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 IFT27 Ivone Leong Source Expert Review Green was added to IFT27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 IFT172 Ivone Leong Source Expert Review Green was added to IFT172.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 GRN Ivone Leong Source Expert Review Green was added to GRN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 GNB3 Ivone Leong Source Expert Review Green was added to GNB3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 CTNNA1 Ivone Leong Source Expert Review Green was added to CTNNA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 CEP250 Ivone Leong Source Expert Review Green was added to CEP250.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 ARL13B Ivone Leong Source Expert Review Green was added to ARL13B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 AFG3L2 Ivone Leong Source Expert Review Green was added to AFG3L2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 MMACHC Ivone Leong Source Expert Review Green was added to MMACHC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 IFT74 Ivone Leong Source Expert Review Green was added to IFT74.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 CTC1 Ivone Leong Source Expert Review Green was added to CTC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 ALPK1 Ivone Leong Source Expert Review Green was added to ALPK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 ABCC6 Ivone Leong Source Expert Review Green was added to ABCC6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 SLC6A6 Ivone Leong Source Expert Review Green was added to SLC6A6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 USP45 Ivone Leong Source Expert Review Green was added to USP45.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 DRAM2 Ivone Leong Source Expert Review Green was added to DRAM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 TINF2 Ivone Leong Source Expert Review Green was added to TINF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 TMEM216 Ivone Leong Source Expert Review Green was added to TMEM216.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 ROM1 Ivone Leong Source Expert Review Green was added to ROM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 TUBGCP4 Ivone Leong Source Expert Review Green was added to TUBGCP4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 TRNT1 Ivone Leong Source Expert Review Green was added to TRNT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 TREX1 Ivone Leong Source Expert Review Green was added to TREX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 PRDM13 Ivone Leong Source Expert Review Green was added to PRDM13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 POMGNT1 Ivone Leong Source Expert Review Green was added to POMGNT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 PAX2 Ivone Leong Source Expert Review Green was added to PAX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 NEUROD1 Ivone Leong Source Expert Review Green was added to NEUROD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 TRAF3IP1 Ivone Leong Source Expert Review Green was added to TRAF3IP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 TMEM231 Ivone Leong Source Expert Review Green was added to TMEM231.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 RIMS2 Ivone Leong Source Expert Review Green was added to RIMS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.243 PEX6 Ivone Leong Source Expert Review Green was added to PEX6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Optic neuropathy v2.58 UCHL1 Ivone Leong Tag for-review was removed from gene: UCHL1.
Optic neuropathy v2.58 NBAS Ivone Leong Tag for-review was removed from gene: NBAS.
Optic neuropathy v2.58 MECR Ivone Leong Tag for-review was removed from gene: MECR.
Optic neuropathy v2.58 FDXR Ivone Leong Tag for-review was removed from gene: FDXR.
Optic neuropathy v2.58 AFG3L2 Ivone Leong Tag for-review was removed from gene: AFG3L2.
Optic neuropathy v2.58 UCHL1 Ivone Leong commented on gene: UCHL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Optic neuropathy v2.58 NBAS Ivone Leong commented on gene: NBAS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Optic neuropathy v2.58 MECR Ivone Leong commented on gene: MECR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Optic neuropathy v2.58 FDXR Ivone Leong commented on gene: FDXR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Optic neuropathy v2.58 AFG3L2 Ivone Leong commented on gene: AFG3L2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Optic neuropathy v2.57 UCHL1 Ivone Leong Source Expert Review Green was added to UCHL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Optic neuropathy v2.57 NBAS Ivone Leong Source Expert Review Green was added to NBAS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Optic neuropathy v2.57 MECR Ivone Leong Source Expert Review Green was added to MECR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Optic neuropathy v2.57 FDXR Ivone Leong Source Expert Review Green was added to FDXR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Optic neuropathy v2.57 AFG3L2 Ivone Leong Source Expert Review Green was added to AFG3L2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ophthalmological ciliopathies v1.27 IFT27 Ivone Leong Tag for-review was removed from gene: IFT27.
Ophthalmological ciliopathies v1.27 C8orf37 Ivone Leong Tag for-review was removed from gene: C8orf37.
Ophthalmological ciliopathies v1.27 IFT74 Ivone Leong Tag for-review was removed from gene: IFT74.
Ophthalmological ciliopathies v1.27 IFT74 Ivone Leong commented on gene: IFT74: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Ophthalmological ciliopathies v1.27 C8orf37 Ivone Leong commented on gene: C8orf37: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Ophthalmological ciliopathies v1.27 IFT27 Ivone Leong commented on gene: IFT27
Ophthalmological ciliopathies v1.27 IFT74 Ivone Leong Source Expert Review Green was added to IFT74.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ophthalmological ciliopathies v1.27 C8orf37 Ivone Leong Source Expert Review Green was added to C8orf37.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ophthalmological ciliopathies v1.27 IFT27 Ivone Leong Source Expert Review Green was added to IFT27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Corneal dystrophy v1.10 MIR184 Ivone Leong Tag for-review was removed from gene: MIR184.
Corneal dystrophy v1.10 MIR184 Ivone Leong commented on gene: MIR184: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Corneal dystrophy v1.9 MIR184 Ivone Leong Source Expert Review Red was added to MIR184.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Bilateral congenital or childhood onset cataracts v2.98 CTDP1 Ivone Leong Tag for-review was removed from gene: CTDP1.
Bilateral congenital or childhood onset cataracts v2.98 CTDP1 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. Retain as amber - c.863 + 389C > T is still the only variant associated with the relevant disorder and unclear if coding sequence variants would cause the same phenotype.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Bilateral congenital or childhood onset cataracts v2.98 EED Ivone Leong Tag for-review was removed from gene: EED.
Bilateral congenital or childhood onset cataracts v2.98 GEMIN4 Ivone Leong Tag for-review was removed from gene: GEMIN4.
Bilateral congenital or childhood onset cataracts v2.98 ZNF526 Ivone Leong Tag for-review was removed from gene: ZNF526.
Bilateral congenital or childhood onset cataracts v2.98 SREBF1 Ivone Leong Tag for-review was removed from gene: SREBF1.
Bilateral congenital or childhood onset cataracts v2.98 SLC16A12 Ivone Leong Tag for-review was removed from gene: SLC16A12.
Bilateral congenital or childhood onset cataracts v2.98 PIK3C2A Ivone Leong Tag for-review was removed from gene: PIK3C2A.
Bilateral congenital or childhood onset cataracts v2.98 GFER Ivone Leong Tag for-review was removed from gene: GFER.
Bilateral congenital or childhood onset cataracts v2.98 ABHD12 Ivone Leong Tag for-review was removed from gene: ABHD12.
Bilateral congenital or childhood onset cataracts v2.98 POLG Ivone Leong Tag for-review was removed from gene: POLG.
Bilateral congenital or childhood onset cataracts v2.98 NACC1 Ivone Leong Tag for-review was removed from gene: NACC1.
Bilateral congenital or childhood onset cataracts v2.98 INTS1 Ivone Leong Tag for-review was removed from gene: INTS1.
Bilateral congenital or childhood onset cataracts v2.98 COG4 Ivone Leong Tag for-review was removed from gene: COG4.
Bilateral congenital or childhood onset cataracts v2.98 ANAPC1 Ivone Leong Tag for-review was removed from gene: ANAPC1.
Bilateral congenital or childhood onset cataracts v2.98 NUP188 Ivone Leong Tag for-review was removed from gene: NUP188.
Bilateral congenital or childhood onset cataracts v2.98 ATAD3A Ivone Leong Tag for-review was removed from gene: ATAD3A.
Bilateral congenital or childhood onset cataracts v2.98 VPS4A Ivone Leong Tag for-review was removed from gene: VPS4A.
Bilateral congenital or childhood onset cataracts v2.98 CTDP1 Ivone Leong commented on gene: CTDP1: Submitted on behalf of NHS GMS "Retain as amber - c.863 + 389C > T is still the only variant associated with the relevant disorder and unclear if coding sequence variants would cause the same phenotype."
Bilateral congenital or childhood onset cataracts v2.98 ANAPC1 Ivone Leong commented on gene: ANAPC1: Submitted on behalf of NHS GMS "Please note that there is a common deep intronic variant."
Bilateral congenital or childhood onset cataracts v2.98 CTDP1 Ivone Leong commented on gene: CTDP1: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. Retain as amber - c.863 + 389C > T is still the only variant associated with the relevant disorder and unclear if coding sequence variants would cause the same phenotype.
Bilateral congenital or childhood onset cataracts v2.98 EED Ivone Leong commented on gene: EED: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 GEMIN4 Ivone Leong commented on gene: GEMIN4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 ZNF526 Ivone Leong commented on gene: ZNF526
Bilateral congenital or childhood onset cataracts v2.98 SREBF1 Ivone Leong commented on gene: SREBF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 SLC16A12 Ivone Leong commented on gene: SLC16A12: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 PIK3C2A Ivone Leong commented on gene: PIK3C2A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 GFER Ivone Leong commented on gene: GFER: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 ABHD12 Ivone Leong commented on gene: ABHD12: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 POLG Ivone Leong commented on gene: POLG: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 PLOD3 Ivone Leong commented on gene: PLOD3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 NACC1 Ivone Leong commented on gene: NACC1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 INTS1 Ivone Leong commented on gene: INTS1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 COG4 Ivone Leong commented on gene: COG4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 ANAPC1 Ivone Leong commented on gene: ANAPC1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.Please note that there is a common deep intronic variant
Bilateral congenital or childhood onset cataracts v2.98 NUP188 Ivone Leong commented on gene: NUP188
Bilateral congenital or childhood onset cataracts v2.98 ATAD3A Ivone Leong commented on gene: ATAD3A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bilateral congenital or childhood onset cataracts v2.98 VPS4A Ivone Leong commented on gene: VPS4A
Bilateral congenital or childhood onset cataracts v2.97 EED Ivone Leong Source Expert Review Red was added to EED.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Bilateral congenital or childhood onset cataracts v2.97 GEMIN4 Ivone Leong Source Expert Review Amber was added to GEMIN4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.97 ZNF526 Ivone Leong Source Expert Review Green was added to ZNF526.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 SREBF1 Ivone Leong Source Expert Review Green was added to SREBF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 SLC16A12 Ivone Leong Source Expert Review Green was added to SLC16A12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 PIK3C2A Ivone Leong Source Expert Review Green was added to PIK3C2A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 GFER Ivone Leong Source Expert Review Green was added to GFER.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 ABHD12 Ivone Leong Source Expert Review Green was added to ABHD12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 POLG Ivone Leong Source Expert Review Green was added to POLG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 PLOD3 Ivone Leong Source Expert Review Green was added to PLOD3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 NACC1 Ivone Leong Source Expert Review Green was added to NACC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 INTS1 Ivone Leong Source Expert Review Green was added to INTS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 COG4 Ivone Leong Source Expert Review Green was added to COG4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 ANAPC1 Ivone Leong Source Expert Review Green was added to ANAPC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 NUP188 Ivone Leong Source Expert Review Green was added to NUP188.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 ATAD3A Ivone Leong Source Expert Review Green was added to ATAD3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bilateral congenital or childhood onset cataracts v2.97 VPS4A Ivone Leong Source Expert Review Green was added to VPS4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bardet Biedl syndrome v1.13 IFT27 Ivone Leong Tag for-review was removed from gene: IFT27.
Bardet Biedl syndrome v1.13 IFT74 Ivone Leong Tag for-review was removed from gene: IFT74.
Bardet Biedl syndrome v1.13 IFT74 Ivone Leong commented on gene: IFT74: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bardet Biedl syndrome v1.13 IFT27 Ivone Leong commented on gene: IFT27: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bardet Biedl syndrome v1.12 IFT74 Ivone Leong Source Expert Review Green was added to IFT74.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bardet Biedl syndrome v1.12 IFT27 Ivone Leong Source Expert Review Green was added to IFT27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v2.75 TRIM8 Eleanor Williams Tag Q4_21_rating was removed from gene: TRIM8.
Proteinuric renal disease v2.75 LCAT Eleanor Williams Tag Q4_21_rating was removed from gene: LCAT.
Tag Q4_21_NHS_review was removed from gene: LCAT.
Proteinuric renal disease v2.75 TRIM8 Eleanor Williams commented on gene: TRIM8
Proteinuric renal disease v2.75 LCAT Eleanor Williams commented on gene: LCAT: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Proteinuric renal disease v2.74 TRIM8 Eleanor Williams Source Expert Review Green was added to TRIM8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v2.74 LCAT Eleanor Williams Source Expert Review Green was added to LCAT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v2.73 YRDC Eleanor Williams Phenotypes for gene: YRDC were changed from Galloway-Mowat syndrome to Galloway-Mowat syndrome MONDO:0009627
Proteinuric renal disease v2.72 YRDC Eleanor Williams Tag for-review was removed from gene: YRDC.
Proteinuric renal disease v2.72 GON7 Eleanor Williams Tag for-review was removed from gene: GON7.
Proteinuric renal disease v2.72 APOL1 Eleanor Williams Mode of pathogenicity for gene: APOL1 was changed from to Other
Proteinuric renal disease v2.71 APOL1 Eleanor Williams Tag for-review was removed from gene: APOL1.
Proteinuric renal disease v2.71 DAAM2 Eleanor Williams Tag for-review was removed from gene: DAAM2.
Proteinuric renal disease v2.71 FN1 Eleanor Williams Phenotypes for gene: FN1 were changed from Glomerulopathy with fibronectin deposits 2, 601894 to Glomerulopathy with fibronectin deposits 2, OMIM:601894
Proteinuric renal disease v2.70 FN1 Eleanor Williams Tag for-review was removed from gene: FN1.
Proteinuric renal disease v2.70 APOE Eleanor Williams Phenotypes for gene: APOE were changed from Lipoprotein glomerulopathy, MIM# 611771 to Lipoprotein glomerulopathy, OMIM:611771
Proteinuric renal disease v2.69 APOE Eleanor Williams Tag for-review was removed from gene: APOE.
Proteinuric renal disease v2.69 TPRKB Eleanor Williams Phenotypes for gene: TPRKB were changed from Galloway-Mowat syndrome 5 #617731 to Galloway-Mowat syndrome 5, OMIM:617731
Proteinuric renal disease v2.68 TPRKB Eleanor Williams Tag for-review was removed from gene: TPRKB.
Proteinuric renal disease v2.68 CD151 Eleanor Williams Tag for-review was removed from gene: CD151.
Tag Q3_21_NHS_review was removed from gene: CD151.
Proteinuric renal disease v2.68 DGKE Eleanor Williams Phenotypes for gene: DGKE were changed from Nephrotic syndrome, type 7 #615008 to Nephrotic syndrome, type 7, OMIM:615008
Proteinuric renal disease v2.67 DGKE Eleanor Williams Tag for-review was removed from gene: DGKE.
Proteinuric renal disease v2.67 AMN Eleanor Williams Phenotypes for gene: AMN were changed from Megaloblastic anemia-1, Norwegian type, 261100; (originally on the Imerslund-Grasbeck syndrome gene panel) to Megaloblastic anemia-1, Norwegian type, OMIM:261100
Proteinuric renal disease v2.66 AMN Eleanor Williams Tag for-review was removed from gene: AMN.
Proteinuric renal disease v2.66 YRDC Eleanor Williams commented on gene: YRDC: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Proteinuric renal disease v2.66 GON7 Eleanor Williams commented on gene: GON7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Proteinuric renal disease v2.66 APOL1 Eleanor Williams commented on gene: APOL1: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Proteinuric renal disease v2.66 DAAM2 Eleanor Williams commented on gene: DAAM2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Proteinuric renal disease v2.66 FN1 Eleanor Williams commented on gene: FN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Proteinuric renal disease v2.66 APOE Eleanor Williams commented on gene: APOE: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Proteinuric renal disease v2.66 TPRKB Eleanor Williams commented on gene: TPRKB: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Proteinuric renal disease v2.66 CD151 Eleanor Williams commented on gene: CD151: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Proteinuric renal disease v2.66 DGKE Eleanor Williams commented on gene: DGKE: The rating of this gene has been updated following NHS Genomic Medicine Service approval. The reviewers note and overlap with aHUS
Proteinuric renal disease v2.66 AMN Eleanor Williams commented on gene: AMN: The rating of this gene has been updated following NHS Genomic Medicine Service approval. The reviewers note that a homozygous splice variant in patient with Imerslund-Grasbeck syndrome has been reported.
Proteinuric renal disease v2.65 YRDC Eleanor Williams Source Expert Review Green was added to YRDC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v2.65 GON7 Eleanor Williams Source Expert Review Green was added to GON7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v2.65 DAAM2 Eleanor Williams Source Expert Review Green was added to DAAM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v2.65 FN1 Eleanor Williams Source Expert Review Green was added to FN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v2.65 APOE Eleanor Williams Source Expert Review Green was added to APOE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v2.65 TPRKB Eleanor Williams Source Expert Review Green was added to TPRKB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v2.65 CD151 Eleanor Williams Source Expert Review Green was added to CD151.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v2.65 DGKE Eleanor Williams Source Expert Review Green was added to DGKE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v2.65 AMN Eleanor Williams Source Expert Review Green was added to AMN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Nephrocalcinosis or nephrolithiasis v2.32 MOCOS Eleanor Williams Tag Q3_21_rating was removed from gene: MOCOS.
Tag Q3_21_NHS_review was removed from gene: MOCOS.
Nephrocalcinosis or nephrolithiasis v2.32 MOCOS Eleanor Williams commented on gene: MOCOS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Nephrocalcinosis or nephrolithiasis v2.31 MOCOS Eleanor Williams Source Expert Review Green was added to MOCOS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Nephrocalcinosis or nephrolithiasis v2.30 HNF4A Eleanor Williams Phenotypes for gene: HNF4A were changed from Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026
Nephrocalcinosis or nephrolithiasis v2.29 HNF4A Eleanor Williams Tag for-review was removed from gene: HNF4A.
Nephrocalcinosis or nephrolithiasis v2.29 VPS33B Eleanor Williams Phenotypes for gene: VPS33B were changed from Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 to Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085
Nephrocalcinosis or nephrolithiasis v2.28 VPS33B Eleanor Williams Tag for-review was removed from gene: VPS33B.
Nephrocalcinosis or nephrolithiasis v2.28 VIPAS39 Eleanor Williams Phenotypes for gene: VIPAS39 were changed from Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 to Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404
Nephrocalcinosis or nephrolithiasis v2.27 VIPAS39 Eleanor Williams Tag for-review was removed from gene: VIPAS39.
Nephrocalcinosis or nephrolithiasis v2.27 VIPAS39 Eleanor Williams commented on gene: VIPAS39
Nephrocalcinosis or nephrolithiasis v2.27 VPS33B Eleanor Williams commented on gene: VPS33B
Nephrocalcinosis or nephrolithiasis v2.27 HNF4A Eleanor Williams commented on gene: HNF4A: The rating of this gene has been updated following NHS Genomic Medicine Service approval. The reviewers note that nephrocalcinosis is a feature of Fanconi renotubular syndrome.
Nephrocalcinosis or nephrolithiasis v2.26 VIPAS39 Eleanor Williams Source Expert Review Green was added to VIPAS39.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Nephrocalcinosis or nephrolithiasis v2.26 VPS33B Eleanor Williams Source Expert Review Green was added to VPS33B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Nephrocalcinosis or nephrolithiasis v2.26 HNF4A Eleanor Williams Source Expert Review Green was added to HNF4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.242 SLC38A8 Mohammed Derar reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: None; Publications: Poulter et al (2013) (PMID: 24290379), Campbell et al. (2019) (DOI: 31719542); Phenotypes: foveal hypoplasia, chiasmal misrouting, anterior segment dysgenesis, nystagmus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.242 FRMD7 Mohammed Derar gene: FRMD7 was added
gene: FRMD7 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: FRMD7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FRMD7 were set to Choi et al. (2018) (PMID: 30025138); Thomas et al. (2014) (PMID:24688117)
Phenotypes for gene: FRMD7 were set to Infantile nystagmus; foveal hypoplasia
Penetrance for gene: FRMD7 were set to unknown
Review for gene: FRMD7 was set to GREEN
Added comment: Mutations in FRMD7 are known to cause infantile nystagmus in an X-linked inheritance (Choi et al., 2018). Recently, with the aid of spectral domain OCT, patients with missense, splice site and nonsense variants in FRMD7 showed a shallow foveal pit diagnosed as grade 1foveal hypoplasia (Thomas et al., 2014)
Sources: Literature
Retinal disorders v2.242 AHR Mohammed Derar reviewed gene: AHR: Rating: GREEN; Mode of pathogenicity: None; Publications: Zhou et al. (2018) (PMID: 29726989), Mayer et al. (2019) (PMID: 31009037); Phenotypes: Retinitis pigmentosa, Foveal hypoplasia, infantile nystagmus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.242 PAX6 Mohammed Derar reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: Hingorani et al. (2009) (PMID: 19218613), Thomas et al (2014) (PMID: 23942204); Phenotypes: foveal hypoplasia, optic nerve hypoplasia, anirdia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cystic kidney disease v2.35 FLCN Eleanor Williams Tag Q2_21_rating was removed from gene: FLCN.
Tag Q2_21_NHS_review was removed from gene: FLCN.
Cystic kidney disease v2.35 FLCN Eleanor Williams commented on gene: FLCN: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cystic kidney disease v2.34 FLCN Eleanor Williams Source Expert Review Green was added to FLCN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cystic kidney disease v2.33 COL4A4 Eleanor Williams Tag for-review was removed from gene: COL4A4.
Cystic kidney disease v2.33 ALG9 Eleanor Williams Tag for-review was removed from gene: ALG9.
Cystic kidney disease v2.33 ALG8 Eleanor Williams Tag for-review was removed from gene: ALG8.
Cystic kidney disease v2.33 SEC61A1 Eleanor Williams commented on gene: SEC61A1: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Cystic kidney disease v2.33 COL4A4 Eleanor Williams commented on gene: COL4A4: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. The reviewers note that only 1 patient reported where they would be classed as AD-PKD. The other 3 are primarily TBMN patients who also have renal cysts.
Cystic kidney disease v2.33 ALG9 Eleanor Williams commented on gene: ALG9: The rating and mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Cystic kidney disease v2.33 ALG8 Eleanor Williams commented on gene: ALG8: The rating and mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Cystic kidney disease v2.32 SEC61A1 Eleanor Williams Source Expert list was added to SEC61A1.
Cystic kidney disease v2.32 ALG9 Eleanor Williams Source Expert Review Green was added to ALG9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cystic kidney disease v2.32 ALG8 Eleanor Williams Source Expert Review Green was added to ALG8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Proteinuric renal disease v2.64 EMP2 Daniel Gale reviewed gene: EMP2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31508419, 24814193, 29058154; Phenotypes: Proteinuric renal disease, Unexplained paediatric onset end-stage renal disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Skeletal dysplasia v2.186 SNRPB Eleanor Williams commented on gene: SNRPB: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.186 FGFR2 Eleanor Williams commented on gene: FGFR2: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.186 COL11A2 Eleanor Williams commented on gene: COL11A2: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.185 SNRPB Eleanor Williams Mode of inheritance for gene SNRPB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia v2.185 FGFR2 Eleanor Williams Mode of inheritance for gene FGFR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia v2.185 COL11A2 Eleanor Williams Mode of inheritance for gene COL11A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v2.184 PRKG2 Eleanor Williams Tag Q4_21_NHS_review was removed from gene: PRKG2.
Skeletal dysplasia v2.184 MBTPS2 Eleanor Williams Tag Q3_21_rating was removed from gene: MBTPS2.
Tag Q3_21_expert_review was removed from gene: MBTPS2.
Skeletal dysplasia v2.184 MESD Eleanor Williams Tag Q3_21_rating was removed from gene: MESD.
Tag Q3_21_NHS_review was removed from gene: MESD.
Skeletal dysplasia v2.184 ZNF687 Eleanor Williams Tag Q4_21_rating was removed from gene: ZNF687.
Tag Q4_21_NHS_review was removed from gene: ZNF687.
Skeletal dysplasia v2.184 WBP11 Eleanor Williams Tag Q2_21_rating was removed from gene: WBP11.
Skeletal dysplasia v2.184 UNC45A Eleanor Williams Tag Q3_21_rating was removed from gene: UNC45A.
Tag Q3_21_NHS_review was removed from gene: UNC45A.
Skeletal dysplasia v2.184 UFSP2 Eleanor Williams Tag Q2_21_rating was removed from gene: UFSP2.
Skeletal dysplasia v2.184 SGMS2 Eleanor Williams Tag Q3_21_rating was removed from gene: SGMS2.
Skeletal dysplasia v2.184 SCUBE3 Eleanor Williams Tag Q2_21_rating was removed from gene: SCUBE3.
Skeletal dysplasia v2.184 MYO18B Eleanor Williams Tag Q3_21_rating was removed from gene: MYO18B.
Skeletal dysplasia v2.184 LTBP1 Eleanor Williams Tag Q2_21_rating was removed from gene: LTBP1.
Skeletal dysplasia v2.184 LRRK1 Eleanor Williams Tag Q3_21_rating was removed from gene: LRRK1.
Tag Q3_21_NHS_review was removed from gene: LRRK1.
Skeletal dysplasia v2.184 FBN2 Eleanor Williams Tag Q2_21_MOI was removed from gene: FBN2.
Skeletal dysplasia v2.184 DSPP Eleanor Williams Tag Q3_21_expert_review was removed from gene: DSPP.
Skeletal dysplasia v2.184 DLX5 Eleanor Williams Tag Q3_21_MOI was removed from gene: DLX5.
Tag Q3_21_NHS_review was removed from gene: DLX5.
Skeletal dysplasia v2.184 COPB2 Eleanor Williams commented on gene: COPB2: Updating the mode of inheritance of this gene to both Mono and biallelic should be considered
Skeletal dysplasia v2.184 COPB2 Eleanor Williams Tag Q3_21_rating was removed from gene: COPB2.
Tag Q1_22_MOI tag was added to gene: COPB2.
Skeletal dysplasia v2.184 ARCN1 Eleanor Williams Tag Q3_21_rating was removed from gene: ARCN1.
Skeletal dysplasia v2.184 ZNF687 Eleanor Williams commented on gene: ZNF687: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.184 WBP11 Eleanor Williams commented on gene: WBP11: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.184 UNC45A Eleanor Williams commented on gene: UNC45A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.184 UFSP2 Eleanor Williams commented on gene: UFSP2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.184 SGMS2 Eleanor Williams commented on gene: SGMS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.184 SCUBE3 Eleanor Williams commented on gene: SCUBE3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.184 MYO18B Eleanor Williams commented on gene: MYO18B
Skeletal dysplasia v2.184 MESD Eleanor Williams commented on gene: MESD: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.184 MBTPS2 Eleanor Williams commented on gene: MBTPS2: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. It has been agreed to keep this gene as amber at this time.
Skeletal dysplasia v2.184 LTBP1 Eleanor Williams commented on gene: LTBP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.184 LRRK1 Eleanor Williams commented on gene: LRRK1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.184 FBN2 Eleanor Williams commented on gene: FBN2: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.184 DSPP Eleanor Williams commented on gene: DSPP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.184 DLX5 Eleanor Williams commented on gene: DLX5: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.184 COPB2 Eleanor Williams commented on gene: COPB2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.184 ARCN1 Eleanor Williams commented on gene: ARCN1
Skeletal dysplasia v2.183 ZNF687 Eleanor Williams Source Expert Review Green was added to ZNF687.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.183 WBP11 Eleanor Williams Source Expert Review Green was added to WBP11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.183 UNC45A Eleanor Williams Source Expert Review Green was added to UNC45A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.183 UFSP2 Eleanor Williams Source Expert Review Green was added to UFSP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.183 SGMS2 Eleanor Williams Source Expert Review Green was added to SGMS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.183 SCUBE3 Eleanor Williams Source Expert Review Green was added to SCUBE3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.183 MYO18B Eleanor Williams Source Expert Review Green was added to MYO18B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.183 MESD Eleanor Williams Source Expert Review Green was added to MESD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.183 LTBP1 Eleanor Williams Source Expert Review Green was added to LTBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.183 LRRK1 Eleanor Williams Source Expert Review Green was added to LRRK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.183 FBN2 Eleanor Williams Mode of inheritance for gene FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v2.183 DSPP Eleanor Williams Source Expert Review Red was added to DSPP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Skeletal dysplasia v2.183 DLX5 Eleanor Williams Mode of inheritance for gene DLX5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v2.183 COPB2 Eleanor Williams Source Expert Review Green was added to COPB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.183 ARCN1 Eleanor Williams Source Expert Review Green was added to ARCN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.182 TBXAS1 Eleanor Williams Phenotypes for gene: TBXAS1 were changed from Ghosal hematodiaphyseal syndrome 231095 to Ghosal hematodiaphyseal syndrome, OMIM:231095
Skeletal dysplasia v2.181 TBXAS1 Eleanor Williams Tag for-review was removed from gene: TBXAS1.
Skeletal dysplasia v2.181 TBXAS1 Eleanor Williams changed review comment from: The mode of inheritance of this gene has been updated followingNHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.181 KIAA1217 Eleanor Williams Tag for-review was removed from gene: KIAA1217.
Skeletal dysplasia v2.181 HS2ST1 Eleanor Williams Phenotypes for gene: HS2ST1 were changed from Intellectual disability; dysmorphic features; congenital anomalies to Intellectual disability; dysmorphic features; congenital anomalies; Neurofacioskeletal syndrome with or without renal agenesis,OMIM:619194
Skeletal dysplasia v2.180 HS2ST1 Eleanor Williams Tag for-review was removed from gene: HS2ST1.
Skeletal dysplasia v2.180 GZF1 Eleanor Williams Tag for-review was removed from gene: GZF1.
Skeletal dysplasia v2.180 PRKG2 Eleanor Williams Tag for-review was removed from gene: PRKG2.
Skeletal dysplasia v2.180 MTX2 Eleanor Williams Phenotypes for gene: MTX2 were changed from Skeletal dysplasia; Mandibuloacral dysplasia; lipodystrophy; arterial calcification to Skeletal dysplasia; Mandibuloacral dysplasia; lipodystrophy; arterial calcification; Mandibuloacral dysplasia progeroid syndrome, OMIM:619127
Skeletal dysplasia v2.179 MTX2 Eleanor Williams Tag for-review was removed from gene: MTX2.
Skeletal dysplasia v2.179 KDELR2 Eleanor Williams Tag for-review was removed from gene: KDELR2.
Skeletal dysplasia v2.179 PISD Eleanor Williams Phenotypes for gene: PISD were changed from Liberfarb syndrome, 618889 to Liberfarb syndrome, OMIM:618889
Skeletal dysplasia v2.178 PISD Eleanor Williams Tag for-review was removed from gene: PISD.
Skeletal dysplasia v2.178 TONSL Eleanor Williams Tag for-review was removed from gene: TONSL.
Skeletal dysplasia v2.178 NXN Eleanor Williams Phenotypes for gene: NXN were changed from Robinow syndrome, autosomal recessive 2 618529 to Robinow syndrome, autosomal recessive 2, OMIM:618529
Skeletal dysplasia v2.177 NXN Eleanor Williams Tag for-review was removed from gene: NXN.
Skeletal dysplasia v2.177 CSGALNACT1 Eleanor Williams Tag for-review was removed from gene: CSGALNACT1.
Skeletal dysplasia v2.177 COG4 Eleanor Williams Tag for-review was removed from gene: COG4.
Skeletal dysplasia v2.177 NPR3 Eleanor Williams Tag for-review was removed from gene: NPR3.
Skeletal dysplasia v2.177 SMAD6 Eleanor Williams Phenotypes for gene: SMAD6 were changed from Radioulnar synostosis to {Radioulnar synostosis, nonsyndromic}, OMIM:179300
Skeletal dysplasia v2.176 SMAD6 Eleanor Williams Tag for-review was removed from gene: SMAD6.
Skeletal dysplasia v2.176 RINT1 Eleanor Williams Tag for-review was removed from gene: RINT1.
Skeletal dysplasia v2.176 MBTPS1 Eleanor Williams Tag for-review was removed from gene: MBTPS1.
Skeletal dysplasia v2.176 POLR1B Eleanor Williams Tag for-review was removed from gene: POLR1B.
Skeletal dysplasia v2.176 PKDCC Eleanor Williams Tag for-review was removed from gene: PKDCC.
Skeletal dysplasia v2.176 HS2ST1 Eleanor Williams commented on gene: HS2ST1
Skeletal dysplasia v2.176 TBXAS1 Eleanor Williams commented on gene: TBXAS1: The mode of inheritance of this gene has been updated followingNHS Genomic Medicine Service approval.
Skeletal dysplasia v2.176 KIAA1217 Eleanor Williams commented on gene: KIAA1217: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been demoted to red as per reviewer recommendation.
Skeletal dysplasia v2.176 GZF1 Eleanor Williams commented on gene: GZF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.176 PRKG2 Eleanor Williams commented on gene: PRKG2
Skeletal dysplasia v2.176 MTX2 Eleanor Williams commented on gene: MTX2
Skeletal dysplasia v2.176 KDELR2 Eleanor Williams commented on gene: KDELR2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.176 PISD Eleanor Williams commented on gene: PISD
Skeletal dysplasia v2.176 TONSL Eleanor Williams commented on gene: TONSL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.176 NXN Eleanor Williams commented on gene: NXN
Skeletal dysplasia v2.176 CSGALNACT1 Eleanor Williams commented on gene: CSGALNACT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.176 COG4 Eleanor Williams commented on gene: COG4
Skeletal dysplasia v2.176 NPR3 Eleanor Williams commented on gene: NPR3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.176 SMAD6 Eleanor Williams commented on gene: SMAD6
Skeletal dysplasia v2.176 RINT1 Eleanor Williams commented on gene: RINT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.176 MBTPS1 Eleanor Williams commented on gene: MBTPS1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.176 POLR1B Eleanor Williams commented on gene: POLR1B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.176 PKDCC Eleanor Williams commented on gene: PKDCC: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.175 TBXAS1 Eleanor Williams Mode of inheritance for gene TBXAS1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v2.175 KIAA1217 Eleanor Williams Source Expert Review Red was added to KIAA1217.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Skeletal dysplasia v2.175 HS2ST1 Eleanor Williams Source Expert Review Green was added to HS2ST1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 GZF1 Eleanor Williams Source Expert Review Green was added to GZF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 PRKG2 Eleanor Williams Source Expert Review Green was added to PRKG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 MTX2 Eleanor Williams Source Expert Review Green was added to MTX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 KDELR2 Eleanor Williams Source Expert Review Green was added to KDELR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 PISD Eleanor Williams Source Expert Review Green was added to PISD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 TONSL Eleanor Williams Source Expert Review Green was added to TONSL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 NXN Eleanor Williams Source Expert Review Green was added to NXN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 CSGALNACT1 Eleanor Williams Source Expert Review Green was added to CSGALNACT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 COG4 Eleanor Williams Source Expert Review Green was added to COG4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 NPR3 Eleanor Williams Source Expert Review Green was added to NPR3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 SMAD6 Eleanor Williams Source Expert Review Green was added to SMAD6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 RINT1 Eleanor Williams Source Expert Review Green was added to RINT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 MBTPS1 Eleanor Williams Source Expert Review Green was added to MBTPS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 POLR1B Eleanor Williams Source Expert Review Green was added to POLR1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v2.175 PKDCC Eleanor Williams Source Expert Review Green was added to PKDCC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1506 PDZD8 Konstantinos Varvagiannis changed review comment from: Al-Amri et al (2022 - PMID: 35227461) describe 4 affected individuals, belonging to 2 independent consanguineous families, harboring biallelic pLoF PDZD8 variants. The phenotype corresponded to a syndromic form of ID with autistic features. Animal models provide additional evidence for a role of the gene.

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

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

Previous genetic testing was not reported.

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

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

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

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

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

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

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

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

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

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

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

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

Previous genetic testing was not reported.

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

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

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

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

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

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

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

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

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

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

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

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

Previous genetic testing was not reported.

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

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

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

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

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

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

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

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

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

Overall, this gene can be considered for inclusion in the ID panel probably with amber rating pending further reports.
Sources: Literature
Skeletal ciliopathies v1.17 IQCE Eleanor Williams Tag for-review was removed from gene: IQCE.
Skeletal ciliopathies v1.17 IQCE Eleanor Williams commented on gene: IQCE: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal ciliopathies v1.16 IQCE Eleanor Williams Source Expert Review Green was added to IQCE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Osteogenesis imperfecta v2.43 UNC45A Eleanor Williams Tag Q3_21_rating was removed from gene: UNC45A.
Tag Q3_21_NHS_review was removed from gene: UNC45A.
Osteogenesis imperfecta v2.43 MBTPS2 Eleanor Williams Tag Q3_21_rating was removed from gene: MBTPS2.
Tag Q3_21_NHS_review was removed from gene: MBTPS2.
Tag Q3_21_expert_review was removed from gene: MBTPS2.
Osteogenesis imperfecta v2.43 UNC45A Eleanor Williams commented on gene: UNC45A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Osteogenesis imperfecta v2.43 MBTPS2 Eleanor Williams commented on gene: MBTPS2: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. It has been agreed that this gene should remain amber at this time.
Osteogenesis imperfecta v2.42 UNC45A Eleanor Williams Source Expert Review Green was added to UNC45A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Osteogenesis imperfecta v2.41 KDELR2 Eleanor Williams Publications for gene: KDELR2 were set to 33053334
Osteogenesis imperfecta v2.40 MESD Eleanor Williams Publications for gene: MESD were set to 31564437
Osteogenesis imperfecta v2.39 MESD Eleanor Williams Tag for-review was removed from gene: MESD.
Osteogenesis imperfecta v2.39 KDELR2 Eleanor Williams Tag for-review was removed from gene: KDELR2.
Osteogenesis imperfecta v2.39 KDELR2 Eleanor Williams commented on gene: KDELR2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Osteogenesis imperfecta v2.39 MESD Eleanor Williams commented on gene: MESD: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Osteogenesis imperfecta v2.38 KDELR2 Eleanor Williams Source Expert Review Green was added to KDELR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Osteogenesis imperfecta v2.38 MESD Eleanor Williams Source Expert Review Green was added to MESD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb disorders v2.74 LRP4 Eleanor Williams commented on gene: LRP4: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Limb disorders v2.74 LMBR1 Eleanor Williams commented on gene: LMBR1: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Limb disorders v2.73 LRP4 Eleanor Williams Mode of inheritance for gene LRP4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb disorders v2.73 LMBR1 Eleanor Williams Mode of inheritance for gene LMBR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb disorders v2.72 LRP4 Eleanor Williams Phenotypes for gene: LRP4 were changed from Cenani-Lenz syndactyly syndrome, 212780; CLSS; Cenani syndactyly; Cenani-Lenz syndactyly; Syndactyly type 7; Polydactyly to Cenani-Lenz syndactyly syndrome, OMIM:212780; CLSS; Cenani syndactyly; Cenani-Lenz syndactyly; Syndactyly type 7; Polydactyly
Limb disorders v2.71 MECOM Eleanor Williams Tag Q3_21_rating was removed from gene: MECOM.
Tag Q3_21_NHS_review was removed from gene: MECOM.
Limb disorders v2.71 MECOM Eleanor Williams commented on gene: MECOM: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Limb disorders v2.70 MECOM Eleanor Williams Source Expert Review Green was added to MECOM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb disorders v2.69 SMO Eleanor Williams Tag for-review was removed from gene: SMO.
Limb disorders v2.69 PRKACB Eleanor Williams Tag for-review was removed from gene: PRKACB.
Limb disorders v2.69 KIAA0825 Eleanor Williams Tag for-review was removed from gene: KIAA0825.
Limb disorders v2.69 IQCE Eleanor Williams Tag for-review was removed from gene: IQCE.
Limb disorders v2.69 CEP55 Eleanor Williams Tag for-review was removed from gene: CEP55.
Limb disorders v2.69 KYNU Eleanor Williams Phenotypes for gene: KYNU were changed from Vertebral, cardiac, renal, and limb defects syndrome 2, 617661; hand hyperphalangism to Vertebral, cardiac, renal, and limb defects syndrome 2, OMIM:617661; hand hyperphalangism
Limb disorders v2.68 KYNU Eleanor Williams Tag for-review was removed from gene: KYNU.
Limb disorders v2.68 IFT27 Eleanor Williams Phenotypes for gene: IFT27 were changed from ?Bardet-Biedl syndrome 19, 615996; Polydactyly to Bardet-Biedl syndrome 19, OMIM:615996; Polydactyly
Limb disorders v2.67 IFT27 Eleanor Williams Tag for-review was removed from gene: IFT27.
Limb disorders v2.67 TRAF7 Eleanor Williams Tag for-review was removed from gene: TRAF7.
Limb disorders v2.67 SMO Eleanor Williams commented on gene: SMO: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Limb disorders v2.67 PRKACB Eleanor Williams commented on gene: PRKACB
Limb disorders v2.67 KIAA0825 Eleanor Williams commented on gene: KIAA0825: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Limb disorders v2.67 IQCE Eleanor Williams commented on gene: IQCE: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Limb disorders v2.67 CEP55 Eleanor Williams commented on gene: CEP55
Limb disorders v2.67 KYNU Eleanor Williams commented on gene: KYNU: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Limb disorders v2.67 IFT27 Eleanor Williams commented on gene: IFT27: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Limb disorders v2.67 TRAF7 Eleanor Williams commented on gene: TRAF7: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. The reviewers note that the penetrance of limb defects seems low and dev delay main feature - gene is already green on R29 (Intellectual disability) and R27 (Paediatric disorders) panels.
Limb disorders v2.66 SMO Eleanor Williams Source Expert list was added to SMO.
Mode of inheritance for gene SMO was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb disorders v2.66 PRKACB Eleanor Williams Source Expert Review Green was added to PRKACB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb disorders v2.66 KIAA0825 Eleanor Williams Source Expert Review Green was added to KIAA0825.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb disorders v2.66 IQCE Eleanor Williams Source Expert Review Green was added to IQCE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb disorders v2.66 CEP55 Eleanor Williams Source Expert Review Green was added to CEP55.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb disorders v2.66 KYNU Eleanor Williams Source Expert Review Green was added to KYNU.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb disorders v2.66 IFT27 Eleanor Williams Source Expert Review Green was added to IFT27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 B3GAT3 Eleanor Williams Tag Q3_21_rating was removed from gene: B3GAT3.
Tag Q3_21_NHS_review was removed from gene: B3GAT3.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 RNU12 Eleanor Williams Tag Q3_21_rating was removed from gene: RNU12.
Tag Q3_21_expert_review was removed from gene: RNU12.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 MASP1 Eleanor Williams Tag Q3_21_rating was removed from gene: MASP1.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 ZNF462 Eleanor Williams Tag Q3_21_rating was removed from gene: ZNF462.
Tag Q1_22_NHS_review was removed from gene: ZNF462.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 LTBP1 Eleanor Williams Tag Q3_21_rating was removed from gene: LTBP1.
Tag Q1_22_NHS_review was removed from gene: LTBP1.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 HNRNPK Eleanor Williams Tag Q3_21_rating was removed from gene: HNRNPK.
Tag Q1_22_NHS_review was removed from gene: HNRNPK.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 CHD7 Eleanor Williams Tag Q3_21_rating was removed from gene: CHD7.
Tag Q3_21_NHS_review was removed from gene: CHD7.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 ACTG1 Eleanor Williams Tag Q3_21_rating was removed from gene: ACTG1.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 ACTB Eleanor Williams Tag Q3_21_rating was removed from gene: ACTB.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 ZNF462 Eleanor Williams commented on gene: ZNF462: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 RNU12 Eleanor Williams commented on gene: RNU12: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. It has been agreed that this gene should remain amber at this time.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 MASP1 Eleanor Williams commented on gene: MASP1: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. It has been agreed that this gene should remain amber at this time.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 LTBP1 Eleanor Williams commented on gene: LTBP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 HNRNPK Eleanor Williams commented on gene: HNRNPK: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 CHD7 Eleanor Williams commented on gene: CHD7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 ACTG1 Eleanor Williams commented on gene: ACTG1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 ACTB Eleanor Williams commented on gene: ACTB: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.64 ZNF462 Eleanor Williams Source Expert Review Green was added to ZNF462.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.64 LTBP1 Eleanor Williams Source Expert Review Green was added to LTBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.64 HNRNPK Eleanor Williams Source Expert Review Green was added to HNRNPK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.64 CHD7 Eleanor Williams Source Expert Review Green was added to CHD7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.64 ACTG1 Eleanor Williams Source Expert Review Green was added to ACTG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.64 ACTB Eleanor Williams Source Expert Review Green was added to ACTB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.63 B3GAT3 Eleanor Williams Tag for-review was removed from gene: B3GAT3.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.63 SOX6 Eleanor Williams Tag for-review was removed from gene: SOX6.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.63 PTCH1 Eleanor Williams Tag for-review was removed from gene: PTCH1.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.63 SIX1 Eleanor Williams Tag for-review was removed from gene: SIX1.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.63 TRAF7 Eleanor Williams Tag for-review was removed from gene: TRAF7.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.63 SOX6 Eleanor Williams commented on gene: SOX6: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. No new evidence. For-review tag should have been removed after Helen Lord review in Jan 2021.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.63 PTCH1 Eleanor Williams commented on gene: PTCH1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.63 SIX1 Eleanor Williams commented on gene: SIX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.63 B3GAT3 Eleanor Williams commented on gene: B3GAT3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.63 TRAF7 Eleanor Williams commented on gene: TRAF7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.62 PTCH1 Eleanor Williams Source Expert Review Green was added to PTCH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.62 SIX1 Eleanor Williams Source Expert Review Green was added to SIX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.62 B3GAT3 Eleanor Williams Source Expert Review Green was added to B3GAT3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.62 TRAF7 Eleanor Williams Source Expert Review Green was added to TRAF7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Clefting v2.65 POLR1D Eleanor Williams commented on gene: POLR1D
Clefting v2.65 COL2A1 Eleanor Williams commented on gene: COL2A1
Clefting v2.65 COL11A2 Eleanor Williams commented on gene: COL11A2
Clefting v2.65 COL11A1 Eleanor Williams commented on gene: COL11A1
Clefting v2.64 POLR1D Eleanor Williams Mode of inheritance for gene POLR1D was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Clefting v2.64 COL2A1 Eleanor Williams Mode of inheritance for gene COL2A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Clefting v2.64 COL11A2 Eleanor Williams Mode of inheritance for gene COL11A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Clefting v2.64 COL11A1 Eleanor Williams Mode of inheritance for gene COL11A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.530 SEC61A1 Arina Puzriakova changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. It was agreed that SEC61A1 should remain amber at this time.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.530 SEC61A1 Arina Puzriakova Tag for-review was removed from gene: SEC61A1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.530 STAT5B Arina Puzriakova changed review comment from: Comment on mode of inheritance: MOI to be further discussed by the NHS Genomic Medicine Service team (added TBC tag). Reverted to back to biallelic so the MOI matches the previous signed-off version (v2.1); to: Comment on mode of inheritance: MOI to be further discussed by the NHS Genomic Medicine Service team (added TBC tag). Reverted back to biallelic so the MOI matches the previous signed-off version (v2.1)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.530 STAT5B Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: STAT5B.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.530 STAT5B Arina Puzriakova Added comment: Comment on mode of inheritance: MOI to be further discussed by the NHS Genomic Medicine Service team (added TBC tag). Reverted to back to biallelic so the MOI matches the previous signed-off version (v2.1)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.530 STAT5B Arina Puzriakova Mode of inheritance for gene: STAT5B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 MYO5B Arina Puzriakova Tag for-review was removed from gene: MYO5B.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RAC2 Arina Puzriakova changed review comment from: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been approved by the NHS Genomic Medicine Service.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 TCF3 Arina Puzriakova Tag for-review was removed from gene: TCF3.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 TCF3 Arina Puzriakova changed review comment from: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been approved by the NHS Genomic Medicine Service.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 PIK3CD Arina Puzriakova Tag for-review was removed from gene: PIK3CD.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 PIK3CD Arina Puzriakova changed review comment from: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been approved by the NHS Genomic Medicine Service.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RIPK1 Arina Puzriakova Tag for-review was removed from gene: RIPK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RIPK1 Arina Puzriakova changed review comment from: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been approved by the NHS Genomic Medicine Service.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 BLOC1S6 Arina Puzriakova Tag for-review was removed from gene: BLOC1S6.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 BLOC1S6 Arina Puzriakova changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that this gene should be green.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RNU7-1 Arina Puzriakova Tag for-review was removed from gene: RNU7-1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SOCS1 Arina Puzriakova Tag for-review was removed from gene: SOCS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SNORA31 Arina Puzriakova Tag for-review was removed from gene: SNORA31.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SLC7A7 Arina Puzriakova Tag for-review was removed from gene: SLC7A7.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 CIB1 Arina Puzriakova Tag for-review was removed from gene: CIB1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 EFL1 Arina Puzriakova Tag for-review was removed from gene: EFL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 DBR1 Arina Puzriakova Tag for-review was removed from gene: DBR1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 PAX1 Arina Puzriakova Tag for-review was removed from gene: PAX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 PIK3CG Arina Puzriakova Tag for-review was removed from gene: PIK3CG.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 CDC42 Arina Puzriakova Tag for-review was removed from gene: CDC42.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 IL6ST Arina Puzriakova Tag for-review was removed from gene: IL6ST.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 FCHO1 Arina Puzriakova Tag for-review was removed from gene: FCHO1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 IL6R Arina Puzriakova Tag for-review was removed from gene: IL6R.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 IL2RB Arina Puzriakova Tag for-review was removed from gene: IL2RB.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 HAVCR2 Arina Puzriakova Tag for-review was removed from gene: HAVCR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 NCKAP1L Arina Puzriakova Tag for-review was removed from gene: NCKAP1L.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 FNIP1 Arina Puzriakova Tag for-review was removed from gene: FNIP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 ZNF341 Arina Puzriakova Tag for-review was removed from gene: ZNF341.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 TRIM22 Arina Puzriakova Tag for-review was removed from gene: TRIM22.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 TOP2B Arina Puzriakova Tag for-review was removed from gene: TOP2B.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 TNFRSF9 Arina Puzriakova Tag for-review was removed from gene: TNFRSF9.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 NFE2L2 Arina Puzriakova Tag for-review was removed from gene: NFE2L2.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SRP54 Arina Puzriakova Tag for-review was removed from gene: SRP54.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SMARCD2 Arina Puzriakova Tag for-review was removed from gene: SMARCD2.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RECQL4 Arina Puzriakova Tag for-review was removed from gene: RECQL4.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SLC39A7 Arina Puzriakova Tag for-review was removed from gene: SLC39A7.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 C17orf62 Arina Puzriakova Tag for-review was removed from gene: C17orf62.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 LIG1 Arina Puzriakova Tag for-review was removed from gene: LIG1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 BCL10 Arina Puzriakova Tag for-review was removed from gene: BCL10.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 WDR1 Arina Puzriakova Tag for-review was removed from gene: WDR1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 USP18 Arina Puzriakova Tag for-review was removed from gene: USP18.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RAC2 Arina Puzriakova Tag watchlist was removed from gene: RAC2.
Tag for-review was removed from gene: RAC2.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 ADAM17 Arina Puzriakova Tag for-review was removed from gene: ADAM17.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 DNASE1L3 Arina Puzriakova Tag for-review was removed from gene: DNASE1L3.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 POLE Arina Puzriakova Tag for-review was removed from gene: POLE.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 OAS1 Arina Puzriakova Tag for-review was removed from gene: OAS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 CD247 Arina Puzriakova Tag for-review was removed from gene: CD247.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 NPC1 Arina Puzriakova Tag for-review was removed from gene: NPC1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RAC2 Arina Puzriakova commented on gene: RAC2: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SEC61A1 Arina Puzriakova commented on gene: SEC61A1
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 TCF3 Arina Puzriakova commented on gene: TCF3: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 PIK3CD Arina Puzriakova commented on gene: PIK3CD: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RIPK1 Arina Puzriakova commented on gene: RIPK1: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 BLOC1S6 Arina Puzriakova commented on gene: BLOC1S6
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RNU7-1 Arina Puzriakova commented on gene: RNU7-1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 MYO5B Arina Puzriakova commented on gene: MYO5B
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SOCS1 Arina Puzriakova commented on gene: SOCS1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SNORA31 Arina Puzriakova commented on gene: SNORA31: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SLC7A7 Arina Puzriakova commented on gene: SLC7A7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 CIB1 Arina Puzriakova commented on gene: CIB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 EFL1 Arina Puzriakova commented on gene: EFL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 DBR1 Arina Puzriakova commented on gene: DBR1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 PAX1 Arina Puzriakova commented on gene: PAX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 PIK3CG Arina Puzriakova commented on gene: PIK3CG: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 CDC42 Arina Puzriakova commented on gene: CDC42: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 IL6ST Arina Puzriakova commented on gene: IL6ST: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 FCHO1 Arina Puzriakova commented on gene: FCHO1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 IL6R Arina Puzriakova commented on gene: IL6R: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 IL2RB Arina Puzriakova commented on gene: IL2RB: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 HAVCR2 Arina Puzriakova commented on gene: HAVCR2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 NCKAP1L Arina Puzriakova commented on gene: NCKAP1L: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 FNIP1 Arina Puzriakova commented on gene: FNIP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 ZNF341 Arina Puzriakova commented on gene: ZNF341: The rating of this gene has been updated following NHS Genomic Medicine Service approval. Additional comments from NTGLH: 'Pseudogene affecting exon 15'
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 TRIM22 Arina Puzriakova commented on gene: TRIM22: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 TOP2B Arina Puzriakova commented on gene: TOP2B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 TNFRSF9 Arina Puzriakova commented on gene: TNFRSF9: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 NFE2L2 Arina Puzriakova commented on gene: NFE2L2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SRP54 Arina Puzriakova commented on gene: SRP54: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SMARCD2 Arina Puzriakova commented on gene: SMARCD2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RECQL4 Arina Puzriakova commented on gene: RECQL4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SLC39A7 Arina Puzriakova commented on gene: SLC39A7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 C17orf62 Arina Puzriakova commented on gene: C17orf62: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 LIG1 Arina Puzriakova commented on gene: LIG1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 BCL10 Arina Puzriakova commented on gene: BCL10: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 WDR1 Arina Puzriakova commented on gene: WDR1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 USP18 Arina Puzriakova commented on gene: USP18: The rating of this gene has been updated following NHS Genomic Medicine Service approval. Additional comments from NTGLH: '73.7% Pseudogene exons 3-10 >98% homology ex11 excluded from analysis'
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RAC2 Arina Puzriakova commented on gene: RAC2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 ADAM17 Arina Puzriakova commented on gene: ADAM17: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 DNASE1L3 Arina Puzriakova commented on gene: DNASE1L3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 POLE Arina Puzriakova commented on gene: POLE: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 OAS1 Arina Puzriakova commented on gene: OAS1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 CD247 Arina Puzriakova commented on gene: CD247: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 NPC1 Arina Puzriakova commented on gene: NPC1
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 BLOC1S6 Arina Puzriakova Source Expert Review Green was added to BLOC1S6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 RNU7-1 Arina Puzriakova Source Expert Review Green was added to RNU7-1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 SOCS1 Arina Puzriakova Source Expert Review Green was added to SOCS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 SNORA31 Arina Puzriakova Source Expert Review Green was added to SNORA31.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 SLC7A7 Arina Puzriakova Source Expert Review Green was added to SLC7A7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 CIB1 Arina Puzriakova Source Expert Review Green was added to CIB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 EFL1 Arina Puzriakova Source Expert Review Green was added to EFL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 DBR1 Arina Puzriakova Source Expert Review Green was added to DBR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 PAX1 Arina Puzriakova Source Expert Review Green was added to PAX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 PIK3CG Arina Puzriakova Source Expert Review Green was added to PIK3CG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 CDC42 Arina Puzriakova Source Expert Review Green was added to CDC42.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 IL6ST Arina Puzriakova Source Expert Review Green was added to IL6ST.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 FCHO1 Arina Puzriakova Source Expert Review Green was added to FCHO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 IL6R Arina Puzriakova Source Expert Review Green was added to IL6R.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 IL2RB Arina Puzriakova Source Expert Review Green was added to IL2RB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 HAVCR2 Arina Puzriakova Source Expert Review Green was added to HAVCR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 NCKAP1L Arina Puzriakova Source Expert Review Green was added to NCKAP1L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 FNIP1 Arina Puzriakova Source Expert Review Green was added to FNIP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 ZNF341 Arina Puzriakova Source Expert Review Green was added to ZNF341.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 TRIM22 Arina Puzriakova Source Expert Review Green was added to TRIM22.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 TOP2B Arina Puzriakova Source Expert Review Green was added to TOP2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 TNFRSF9 Arina Puzriakova Source Expert Review Green was added to TNFRSF9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 NFE2L2 Arina Puzriakova Source Expert Review Green was added to NFE2L2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 SRP54 Arina Puzriakova Source Expert Review Green was added to SRP54.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 SMARCD2 Arina Puzriakova Source Expert Review Green was added to SMARCD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 RECQL4 Arina Puzriakova Source Expert Review Green was added to RECQL4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 SLC39A7 Arina Puzriakova Source Expert Review Green was added to SLC39A7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 C17orf62 Arina Puzriakova Source Expert Review Green was added to C17orf62.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 LIG1 Arina Puzriakova Source Expert Review Green was added to LIG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 BCL10 Arina Puzriakova Source Expert Review Green was added to BCL10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 WDR1 Arina Puzriakova Source Expert Review Green was added to WDR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 USP18 Arina Puzriakova Source Expert Review Green was added to USP18.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 RAC2 Arina Puzriakova Source Expert Review Green was added to RAC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 ADAM17 Arina Puzriakova Source Expert Review Green was added to ADAM17.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 DNASE1L3 Arina Puzriakova Source Expert Review Green was added to DNASE1L3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 POLE Arina Puzriakova Source Expert Review Green was added to POLE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 OAS1 Arina Puzriakova Source Expert Review Green was added to OAS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 CD247 Arina Puzriakova Source Expert Review Green was added to CD247.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 NPC1 Arina Puzriakova Source Expert Review Green was added to NPC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare anaemia v1.38 NHLRC2 Arina Puzriakova Tag for-review was removed from gene: NHLRC2.
Rare anaemia v1.38 RPL26 Arina Puzriakova Tag for-review was removed from gene: RPL26.
Rare anaemia v1.38 COX4I2 Arina Puzriakova changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that COX4I2 should be red.
Rare anaemia v1.38 COX4I2 Arina Puzriakova Tag for-review was removed from gene: COX4I2.
Rare anaemia v1.38 VPS4A Arina Puzriakova Tag for-review was removed from gene: VPS4A.
Rare anaemia v1.38 NHLRC2 Arina Puzriakova commented on gene: NHLRC2
Rare anaemia v1.38 RPL26 Arina Puzriakova commented on gene: RPL26
Rare anaemia v1.38 COX4I2 Arina Puzriakova commented on gene: COX4I2
Rare anaemia v1.38 VPS4A Arina Puzriakova commented on gene: VPS4A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Rare anaemia v1.37 RPL26 Arina Puzriakova Source Expert Review Red was added to RPL26.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Rare anaemia v1.37 COX4I2 Arina Puzriakova Source Expert Review Red was added to COX4I2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Rare anaemia v1.37 VPS4A Arina Puzriakova Source Expert Review Green was added to VPS4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v1.57 RPL31 Arina Puzriakova Tag for-review was removed from gene: RPL31.
Cytopenia - NOT Fanconi anaemia v1.57 RPL31 Arina Puzriakova changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that RPL31 should be amber.
Cytopenia - NOT Fanconi anaemia v1.57 RPL9 Arina Puzriakova Tag for-review was removed from gene: RPL9.
Cytopenia - NOT Fanconi anaemia v1.57 KIF23 Arina Puzriakova Tag for-review was removed from gene: KIF23.
Cytopenia - NOT Fanconi anaemia v1.57 RPL26 Arina Puzriakova Tag for-review was removed from gene: RPL26.
Cytopenia - NOT Fanconi anaemia v1.57 KIF23 Arina Puzriakova changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that KIF23 should be amber.
Cytopenia - NOT Fanconi anaemia v1.57 RPL9 Arina Puzriakova changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that RPL9 should be amber.
Cytopenia - NOT Fanconi anaemia v1.57 STN1 Arina Puzriakova Tag for-review was removed from gene: STN1.
Cytopenia - NOT Fanconi anaemia v1.57 SRP54 Arina Puzriakova Tag for-review was removed from gene: SRP54.
Cytopenia - NOT Fanconi anaemia v1.57 AK2 Arina Puzriakova Tag for-review was removed from gene: AK2.
Cytopenia - NOT Fanconi anaemia v1.57 DDX41 Arina Puzriakova Tag for-review was removed from gene: DDX41.
Cytopenia - NOT Fanconi anaemia v1.57 NHP2 Arina Puzriakova Tag for-review was removed from gene: NHP2.
Cytopenia - NOT Fanconi anaemia v1.57 MYSM1 Arina Puzriakova Tag for-review was removed from gene: MYSM1.
Cytopenia - NOT Fanconi anaemia v1.57 EFL1 Arina Puzriakova Tag for-review was removed from gene: EFL1.
Cytopenia - NOT Fanconi anaemia v1.57 RPL31 Arina Puzriakova commented on gene: RPL31: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cytopenia - NOT Fanconi anaemia v1.57 RPL26 Arina Puzriakova commented on gene: RPL26: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cytopenia - NOT Fanconi anaemia v1.57 KIF23 Arina Puzriakova commented on gene: KIF23: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cytopenia - NOT Fanconi anaemia v1.57 RPL9 Arina Puzriakova commented on gene: RPL9: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cytopenia - NOT Fanconi anaemia v1.57 STN1 Arina Puzriakova commented on gene: STN1
Cytopenia - NOT Fanconi anaemia v1.57 SRP54 Arina Puzriakova commented on gene: SRP54: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cytopenia - NOT Fanconi anaemia v1.57 AK2 Arina Puzriakova commented on gene: AK2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cytopenia - NOT Fanconi anaemia v1.57 DDX41 Arina Puzriakova commented on gene: DDX41: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cytopenia - NOT Fanconi anaemia v1.57 NHP2 Arina Puzriakova commented on gene: NHP2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cytopenia - NOT Fanconi anaemia v1.57 MYSM1 Arina Puzriakova commented on gene: MYSM1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cytopenia - NOT Fanconi anaemia v1.57 EFL1 Arina Puzriakova commented on gene: EFL1
Cytopenia - NOT Fanconi anaemia v1.56 RPL31 Arina Puzriakova Source Expert Review Amber was added to RPL31.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v1.56 RPL26 Arina Puzriakova Source Expert Review Red was added to RPL26.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cytopenia - NOT Fanconi anaemia v1.56 KIF23 Arina Puzriakova Source Expert Review Amber was added to KIF23.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v1.56 RPL9 Arina Puzriakova Source Expert Review Amber was added to RPL9.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v1.56 STN1 Arina Puzriakova Source Expert Review Green was added to STN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v1.56 SRP54 Arina Puzriakova Source Expert Review Green was added to SRP54.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v1.56 AK2 Arina Puzriakova Source Expert Review Green was added to AK2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v1.56 DDX41 Arina Puzriakova Source Expert Review Green was added to DDX41.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v1.56 NHP2 Arina Puzriakova Source Expert Review Green was added to NHP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v1.56 MYSM1 Arina Puzriakova Source Expert Review Green was added to MYSM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v1.56 EFL1 Arina Puzriakova Source Expert Review Green was added to EFL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bleeding and platelet disorders v1.33 FLNA Arina Puzriakova Tag for-review was removed from gene: FLNA.
Bleeding and platelet disorders v1.33 CHST14 Arina Puzriakova Tag for-review was removed from gene: CHST14.
Bleeding and platelet disorders v1.33 NBEA Arina Puzriakova Tag for-review was removed from gene: NBEA.
Bleeding and platelet disorders v1.33 HOXA11 Arina Puzriakova Tag for-review was removed from gene: HOXA11.
Bleeding and platelet disorders v1.33 PRKACG Arina Puzriakova Tag for-review was removed from gene: PRKACG.
Bleeding and platelet disorders v1.33 PRKACG Arina Puzriakova changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It was agreed that PRKACG should be Red.
Bleeding and platelet disorders v1.33 IKZF5 Arina Puzriakova Tag for-review was removed from gene: IKZF5.
Bleeding and platelet disorders v1.33 PTGS1 Arina Puzriakova Tag for-review was removed from gene: PTGS1.
Bleeding and platelet disorders v1.33 FLNA Arina Puzriakova commented on gene: FLNA: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that there is enough evidence to promote FLNA to green.
Bleeding and platelet disorders v1.33 CHST14 Arina Puzriakova commented on gene: CHST14: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that there is enough evidence to promote CHST14 to green.
Bleeding and platelet disorders v1.33 NBEA Arina Puzriakova commented on gene: NBEA: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bleeding and platelet disorders v1.33 HOXA11 Arina Puzriakova commented on gene: HOXA11: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bleeding and platelet disorders v1.33 PRKACG Arina Puzriakova commented on gene: PRKACG: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bleeding and platelet disorders v1.33 IKZF5 Arina Puzriakova commented on gene: IKZF5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Bleeding and platelet disorders v1.33 PTGS1 Arina Puzriakova commented on gene: PTGS1
Bleeding and platelet disorders v1.32 FLNA Arina Puzriakova Source Expert Review Green was added to FLNA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bleeding and platelet disorders v1.32 CHST14 Arina Puzriakova Source Expert Review Green was added to CHST14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bleeding and platelet disorders v1.32 NBEA Arina Puzriakova Source Expert Review Red was added to NBEA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Bleeding and platelet disorders v1.32 HOXA11 Arina Puzriakova Source Expert Review Amber was added to HOXA11.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Bleeding and platelet disorders v1.32 PRKACG Arina Puzriakova Source Expert Review Red was added to PRKACG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Bleeding and platelet disorders v1.32 IKZF5 Arina Puzriakova Source Expert Review Green was added to IKZF5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bleeding and platelet disorders v1.32 PTGS1 Arina Puzriakova Source Expert Review Green was added to PTGS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.35 SMN1 Sarah Leigh Tag for-review was removed from gene: SMN1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.35 TOR1AIP1 Sarah Leigh changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.35 TOR1AIP1 Sarah Leigh Tag for-review was removed from gene: TOR1AIP1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.35 SMN1 Sarah Leigh changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.35 SMN1 Sarah Leigh commented on gene: SMN1: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.35 TOR1AIP1 Sarah Leigh commented on gene: TOR1AIP1
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.34 SMN1 Sarah Leigh Source Expert Review Red was added to SMN1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.34 TOR1AIP1 Sarah Leigh Source Expert Review Green was added to TOR1AIP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v1.90 PCYT2 Sarah Leigh Tag for-review was removed from gene: PCYT2.
Adult onset hereditary spastic paraplegia v1.90 PCYT2 Sarah Leigh commented on gene: PCYT2
Adult onset hereditary spastic paraplegia v1.89 PCYT2 Sarah Leigh Source Expert Review Green was added to PCYT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v1.83 SLC12A6 Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: SLC12A6.
Hereditary neuropathy or pain disorder v1.83 SPTBN4 Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: SPTBN4.
Hereditary neuropathy or pain disorder v1.83 NEMF Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: NEMF.
Hereditary neuropathy or pain disorder v1.83 SORD Sarah Leigh Tag for-review was removed from gene: SORD.
Tag Q3_21_NHS_review was removed from gene: SORD.
Hereditary neuropathy or pain disorder v1.83 PNKP Sarah Leigh Tag for-review was removed from gene: PNKP.
Hereditary neuropathy or pain disorder v1.83 SORD Sarah Leigh commented on gene: SORD: NHS Genomic Medicine Service consideration - coverage and variant calling will be compromised by pseudogene issue.
Hereditary neuropathy or pain disorder v1.83 PNKP Sarah Leigh commented on gene: PNKP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary neuropathy or pain disorder v1.83 SORD Sarah Leigh commented on gene: SORD
Hereditary neuropathy or pain disorder v1.82 PNKP Sarah Leigh Source Expert Review Green was added to PNKP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v1.82 SORD Sarah Leigh Source Expert Review Green was added to SORD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.491 ADAM22 Sarah Leigh Tag for-review was removed from gene: ADAM22.
Early onset or syndromic epilepsy v2.491 EEF1A2 Sarah Leigh Tag for-review was removed from gene: EEF1A2.
Early onset or syndromic epilepsy v2.491 CEP85L Sarah Leigh Tag for-review was removed from gene: CEP85L.
Early onset or syndromic epilepsy v2.491 SLC5A6 Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: SLC5A6.
Early onset or syndromic epilepsy v2.491 SCN8A Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: SCN8A.
Early onset or syndromic epilepsy v2.491 CPA6 Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: CPA6.
Early onset or syndromic epilepsy v2.491 APC2 Sarah Leigh Tag for-review was removed from gene: APC2.
Early onset or syndromic epilepsy v2.491 ASNS Sarah Leigh Tag for-review was removed from gene: ASNS.
Early onset or syndromic epilepsy v2.491 ANKRD11 Sarah Leigh Tag for-review was removed from gene: ANKRD11.
Early onset or syndromic epilepsy v2.491 CACNB4 Sarah Leigh Tag for-review was removed from gene: CACNB4.
Early onset or syndromic epilepsy v2.491 CDK19 Sarah Leigh Tag for-review was removed from gene: CDK19.
Early onset or syndromic epilepsy v2.491 GAD1 Sarah Leigh Tag for-review was removed from gene: GAD1.
Early onset or syndromic epilepsy v2.491 PIGK Sarah Leigh Tag for-review was removed from gene: PIGK.
Early onset or syndromic epilepsy v2.491 RALGAPA1 Sarah Leigh Tag for-review was removed from gene: RALGAPA1.
Early onset or syndromic epilepsy v2.491 PPIL1 Sarah Leigh Tag for-review was removed from gene: PPIL1.
Early onset or syndromic epilepsy v2.491 UBR7 Sarah Leigh Tag for-review was removed from gene: UBR7.
Early onset or syndromic epilepsy v2.491 FGF13 Sarah Leigh Tag for-review was removed from gene: FGF13.
Early onset or syndromic epilepsy v2.491 TIMM50 Sarah Leigh Tag for-review was removed from gene: TIMM50.
Early onset or syndromic epilepsy v2.491 TRPM3 Sarah Leigh Tag for-review was removed from gene: TRPM3.
Early onset or syndromic epilepsy v2.491 WDR45B Sarah Leigh Tag for-review was removed from gene: WDR45B.
Early onset or syndromic epilepsy v2.491 SETD5 Sarah Leigh Tag for-review was removed from gene: SETD5.
Early onset or syndromic epilepsy v2.491 SETD1B Sarah Leigh Tag for-review was removed from gene: SETD1B.
Early onset or syndromic epilepsy v2.491 RNF13 Sarah Leigh Tag for-review was removed from gene: RNF13.
Early onset or syndromic epilepsy v2.491 PIGP Sarah Leigh Tag for-review was removed from gene: PIGP.
Early onset or syndromic epilepsy v2.491 KAT5 Sarah Leigh Tag for-review was removed from gene: KAT5.
Early onset or syndromic epilepsy v2.491 PTEN Sarah Leigh Tag for-review was removed from gene: PTEN.
Early onset or syndromic epilepsy v2.491 ADARB1 Sarah Leigh Tag for-review was removed from gene: ADARB1.
Early onset or syndromic epilepsy v2.491 CARS2 Sarah Leigh Tag for-review was removed from gene: CARS2.
Early onset or syndromic epilepsy v2.491 HERC2 Sarah Leigh Tag for-review was removed from gene: HERC2.
Early onset or syndromic epilepsy v2.491 MADD Sarah Leigh Tag for-review was removed from gene: MADD.
Early onset or syndromic epilepsy v2.491 MTHFS Sarah Leigh Tag for-review was removed from gene: MTHFS.
Early onset or syndromic epilepsy v2.491 NR4A2 Sarah Leigh Tag for-review was removed from gene: NR4A2.
Early onset or syndromic epilepsy v2.491 NRROS Sarah Leigh Tag for-review was removed from gene: NRROS.
Early onset or syndromic epilepsy v2.491 OXR1 Sarah Leigh Tag for-review was removed from gene: OXR1.
Early onset or syndromic epilepsy v2.491 SCAF4 Sarah Leigh Tag for-review was removed from gene: SCAF4.
Early onset or syndromic epilepsy v2.491 TUBGCP2 Sarah Leigh Tag for-review was removed from gene: TUBGCP2.
Early onset or syndromic epilepsy v2.491 UGDH Sarah Leigh Tag for-review was removed from gene: UGDH.
Early onset or syndromic epilepsy v2.491 USP18 Sarah Leigh Tag for-review was removed from gene: USP18.
Early onset or syndromic epilepsy v2.491 TMX2 Sarah Leigh Tag for-review was removed from gene: TMX2.
Early onset or syndromic epilepsy v2.491 TRAPPC4 Sarah Leigh Tag for-review was removed from gene: TRAPPC4.
Early onset or syndromic epilepsy v2.491 UGP2 Sarah Leigh Tag for-review was removed from gene: UGP2.
Early onset or syndromic epilepsy v2.491 PCYT2 Sarah Leigh Tag for-review was removed from gene: PCYT2.
Early onset or syndromic epilepsy v2.491 SETD1A Sarah Leigh Tag for-review was removed from gene: SETD1A.
Early onset or syndromic epilepsy v2.491 SERPINI1 Sarah Leigh Tag for-review was removed from gene: SERPINI1.
Early onset or syndromic epilepsy v2.491 RNF113A Sarah Leigh Tag for-review was removed from gene: RNF113A.
Early onset or syndromic epilepsy v2.491 RARS Sarah Leigh Tag for-review was removed from gene: RARS.
Early onset or syndromic epilepsy v2.491 PUM1 Sarah Leigh Tag for-review was removed from gene: PUM1.
Early onset or syndromic epilepsy v2.491 PNPT1 Sarah Leigh Tag for-review was removed from gene: PNPT1.
Early onset or syndromic epilepsy v2.491 LARS Sarah Leigh Tag for-review was removed from gene: LARS.
Early onset or syndromic epilepsy v2.491 NARS Sarah Leigh Tag for-review was removed from gene: NARS.
Early onset or syndromic epilepsy v2.491 TFE3 Sarah Leigh Tag for-review was removed from gene: TFE3.
Early onset or syndromic epilepsy v2.491 H3F3A Sarah Leigh Tag for-review was removed from gene: H3F3A.
Early onset or syndromic epilepsy v2.491 H3F3B Sarah Leigh Tag for-review was removed from gene: H3F3B.
Early onset or syndromic epilepsy v2.491 GRN Sarah Leigh Tag for-review was removed from gene: GRN.
Early onset or syndromic epilepsy v2.491 TBC1D2B Sarah Leigh Tag for-review was removed from gene: TBC1D2B.
Early onset or syndromic epilepsy v2.491 ZNF335 Sarah Leigh Tag for-review was removed from gene: ZNF335.
Early onset or syndromic epilepsy v2.491 TRAPPC12 Sarah Leigh Tag for-review was removed from gene: TRAPPC12.
Early onset or syndromic epilepsy v2.491 DDC Sarah Leigh Tag for-review was removed from gene: DDC.
Early onset or syndromic epilepsy v2.491 ALG14 Sarah Leigh Tag for-review was removed from gene: ALG14.
Early onset or syndromic epilepsy v2.491 GALNT2 Sarah Leigh Tag for-review was removed from gene: GALNT2.
Early onset or syndromic epilepsy v2.491 SEMA6B Sarah Leigh Tag for-review was removed from gene: SEMA6B.
Early onset or syndromic epilepsy v2.491 ALKBH8 Sarah Leigh Tag for-review was removed from gene: ALKBH8.
Early onset or syndromic epilepsy v2.491 LMBRD2 Sarah Leigh Tag for-review was removed from gene: LMBRD2.
Early onset or syndromic epilepsy v2.491 KAT8 Sarah Leigh Tag for-review was removed from gene: KAT8.
Early onset or syndromic epilepsy v2.491 DMXL2 Sarah Leigh Tag for-review was removed from gene: DMXL2.
Early onset or syndromic epilepsy v2.491 DLL1 Sarah Leigh changed review comment from: The rating of this gene has been updated followingNHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 DLL1 Sarah Leigh Tag for-review was removed from gene: DLL1.
Early onset or syndromic epilepsy v2.491 ADAM22 Sarah Leigh commented on gene: ADAM22: NHSGenomic Medicine Service consideration - the amber rating is appropriate for this gene.
Early onset or syndromic epilepsy v2.491 EEF1A2 Sarah Leigh commented on gene: EEF1A2: NHS Genomic Medicine Service consideration - the phenotype is appropriate for this panel
Early onset or syndromic epilepsy v2.491 DLL1 Sarah Leigh commented on gene: DLL1
Early onset or syndromic epilepsy v2.491 SCAMP5 Sarah Leigh commented on gene: SCAMP5: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 DMXL2 Sarah Leigh commented on gene: DMXL2: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 KAT8 Sarah Leigh commented on gene: KAT8: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 TET3 Sarah Leigh commented on gene: TET3: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 LMBRD2 Sarah Leigh commented on gene: LMBRD2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 ALKBH8 Sarah Leigh commented on gene: ALKBH8
Early onset or syndromic epilepsy v2.491 SEMA6B Sarah Leigh commented on gene: SEMA6B
Early onset or syndromic epilepsy v2.491 GALNT2 Sarah Leigh commented on gene: GALNT2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 ALG14 Sarah Leigh commented on gene: ALG14: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 ADAM22 Sarah Leigh commented on gene: ADAM22: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Early onset or syndromic epilepsy v2.491 DDC Sarah Leigh commented on gene: DDC: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 EEF1A2 Sarah Leigh commented on gene: EEF1A2: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Early onset or syndromic epilepsy v2.491 TRAPPC12 Sarah Leigh commented on gene: TRAPPC12
Early onset or syndromic epilepsy v2.491 ZNF335 Sarah Leigh commented on gene: ZNF335
Early onset or syndromic epilepsy v2.491 TBC1D2B Sarah Leigh commented on gene: TBC1D2B
Early onset or syndromic epilepsy v2.491 GRN Sarah Leigh commented on gene: GRN
Early onset or syndromic epilepsy v2.491 DMXL2 Sarah Leigh commented on gene: DMXL2
Early onset or syndromic epilepsy v2.491 H3F3B Sarah Leigh commented on gene: H3F3B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 H3F3A Sarah Leigh commented on gene: H3F3A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 TFE3 Sarah Leigh commented on gene: TFE3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 NARS Sarah Leigh commented on gene: NARS
Early onset or syndromic epilepsy v2.491 LARS Sarah Leigh commented on gene: LARS
Early onset or syndromic epilepsy v2.491 PNPT1 Sarah Leigh commented on gene: PNPT1
Early onset or syndromic epilepsy v2.491 PUM1 Sarah Leigh commented on gene: PUM1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 RARS Sarah Leigh commented on gene: RARS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 RNF113A Sarah Leigh commented on gene: RNF113A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 SERPINI1 Sarah Leigh commented on gene: SERPINI1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 SETD1A Sarah Leigh commented on gene: SETD1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 PCYT2 Sarah Leigh commented on gene: PCYT2
Early onset or syndromic epilepsy v2.491 UGP2 Sarah Leigh commented on gene: UGP2
Early onset or syndromic epilepsy v2.491 TRAPPC4 Sarah Leigh commented on gene: TRAPPC4
Early onset or syndromic epilepsy v2.491 KAT8 Sarah Leigh commented on gene: KAT8
Early onset or syndromic epilepsy v2.491 TMX2 Sarah Leigh commented on gene: TMX2
Early onset or syndromic epilepsy v2.491 USP18 Sarah Leigh commented on gene: USP18
Early onset or syndromic epilepsy v2.491 UGDH Sarah Leigh commented on gene: UGDH
Early onset or syndromic epilepsy v2.491 TUBGCP2 Sarah Leigh commented on gene: TUBGCP2
Early onset or syndromic epilepsy v2.491 SCAF4 Sarah Leigh commented on gene: SCAF4
Early onset or syndromic epilepsy v2.491 OXR1 Sarah Leigh commented on gene: OXR1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 NRROS Sarah Leigh commented on gene: NRROS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 NR4A2 Sarah Leigh commented on gene: NR4A2
Early onset or syndromic epilepsy v2.491 MTHFS Sarah Leigh commented on gene: MTHFS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 MADD Sarah Leigh commented on gene: MADD
Early onset or syndromic epilepsy v2.491 HERC2 Sarah Leigh commented on gene: HERC2
Early onset or syndromic epilepsy v2.491 CARS2 Sarah Leigh commented on gene: CARS2
Early onset or syndromic epilepsy v2.491 ADARB1 Sarah Leigh commented on gene: ADARB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 PTEN Sarah Leigh commented on gene: PTEN: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 KAT5 Sarah Leigh commented on gene: KAT5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 PIGP Sarah Leigh commented on gene: PIGP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 RNF13 Sarah Leigh commented on gene: RNF13: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 SETD1B Sarah Leigh commented on gene: SETD1B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 SETD5 Sarah Leigh commented on gene: SETD5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 WDR45B Sarah Leigh commented on gene: WDR45B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 TRPM3 Sarah Leigh commented on gene: TRPM3
Early onset or syndromic epilepsy v2.491 TIMM50 Sarah Leigh commented on gene: TIMM50: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 FGF13 Sarah Leigh commented on gene: FGF13
Early onset or syndromic epilepsy v2.491 UBR7 Sarah Leigh commented on gene: UBR7
Early onset or syndromic epilepsy v2.491 PPIL1 Sarah Leigh commented on gene: PPIL1
Early onset or syndromic epilepsy v2.491 RALGAPA1 Sarah Leigh commented on gene: RALGAPA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 PIGK Sarah Leigh commented on gene: PIGK: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 GAD1 Sarah Leigh commented on gene: GAD1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 CEP85L Sarah Leigh commented on gene: CEP85L
Early onset or syndromic epilepsy v2.491 CDK19 Sarah Leigh commented on gene: CDK19: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 CACNB4 Sarah Leigh commented on gene: CACNB4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 ANKRD11 Sarah Leigh commented on gene: ANKRD11: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 ASNS Sarah Leigh commented on gene: ASNS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.491 APC2 Sarah Leigh commented on gene: APC2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.490 DLL1 Sarah Leigh Source Expert Review Green was added to DLL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 SCAMP5 Sarah Leigh Source NHS GMS was added to SCAMP5.
Early onset or syndromic epilepsy v2.490 DMXL2 Sarah Leigh Source NHS GMS was added to DMXL2.
Early onset or syndromic epilepsy v2.490 KAT8 Sarah Leigh Source NHS GMS was added to KAT8.
Early onset or syndromic epilepsy v2.490 TET3 Sarah Leigh Source NHS GMS was added to TET3.
Early onset or syndromic epilepsy v2.490 LMBRD2 Sarah Leigh Source Expert Review Green was added to LMBRD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 ALKBH8 Sarah Leigh Source Expert Review Green was added to ALKBH8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 SEMA6B Sarah Leigh Source Expert Review Green was added to SEMA6B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 GALNT2 Sarah Leigh Source Expert Review Green was added to GALNT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 ALG14 Sarah Leigh Source Expert Review Green was added to ALG14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 DDC Sarah Leigh Source Expert Review Green was added to DDC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 TRAPPC12 Sarah Leigh Source Expert Review Green was added to TRAPPC12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 ZNF335 Sarah Leigh Source Expert Review Green was added to ZNF335.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 TBC1D2B Sarah Leigh Source Expert Review Green was added to TBC1D2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 GRN Sarah Leigh Source Expert Review Green was added to GRN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 DMXL2 Sarah Leigh Source Expert Review Green was added to DMXL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 H3F3B Sarah Leigh Source Expert Review Green was added to H3F3B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 H3F3A Sarah Leigh Source Expert Review Green was added to H3F3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 TFE3 Sarah Leigh Source Expert Review Green was added to TFE3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 NARS Sarah Leigh Source Expert Review Green was added to NARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 LARS Sarah Leigh Source Expert Review Green was added to LARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 PNPT1 Sarah Leigh Source Expert Review Green was added to PNPT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 PUM1 Sarah Leigh Source Expert Review Green was added to PUM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 RARS Sarah Leigh Source Expert Review Green was added to RARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 RNF113A Sarah Leigh Source Expert Review Green was added to RNF113A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 SERPINI1 Sarah Leigh Source Expert Review Green was added to SERPINI1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 SETD1A Sarah Leigh Source Expert Review Green was added to SETD1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 PCYT2 Sarah Leigh Source Expert Review Green was added to PCYT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 UGP2 Sarah Leigh Source Expert Review Green was added to UGP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 TRAPPC4 Sarah Leigh Source Expert Review Green was added to TRAPPC4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 KAT8 Sarah Leigh Source Expert Review Green was added to KAT8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 TMX2 Sarah Leigh Source Expert Review Green was added to TMX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 USP18 Sarah Leigh Source Expert Review Green was added to USP18.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 UGDH Sarah Leigh Source Expert Review Green was added to UGDH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 TUBGCP2 Sarah Leigh Source Expert Review Green was added to TUBGCP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 SCAF4 Sarah Leigh Source Expert Review Green was added to SCAF4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 OXR1 Sarah Leigh Source Expert Review Green was added to OXR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 NRROS Sarah Leigh Source Expert Review Green was added to NRROS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 NR4A2 Sarah Leigh Source Expert Review Green was added to NR4A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 MTHFS Sarah Leigh Source Expert Review Green was added to MTHFS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 MADD Sarah Leigh Source Expert Review Green was added to MADD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 HERC2 Sarah Leigh Source Expert Review Green was added to HERC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 CARS2 Sarah Leigh Source Expert Review Green was added to CARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 ADARB1 Sarah Leigh Source Expert Review Green was added to ADARB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 PTEN Sarah Leigh Source Expert Review Green was added to PTEN.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 KAT5 Sarah Leigh Source Expert Review Green was added to KAT5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 PIGP Sarah Leigh Source Expert Review Green was added to PIGP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 RNF13 Sarah Leigh Source Expert Review Green was added to RNF13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 SETD1B Sarah Leigh Source Expert Review Green was added to SETD1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 SETD5 Sarah Leigh Source Expert Review Green was added to SETD5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 WDR45B Sarah Leigh Source Expert Review Green was added to WDR45B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 TRPM3 Sarah Leigh Source Expert Review Green was added to TRPM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 TIMM50 Sarah Leigh Source Expert Review Green was added to TIMM50.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 FGF13 Sarah Leigh Source Expert Review Green was added to FGF13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 UBR7 Sarah Leigh Source Expert Review Green was added to UBR7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 PPIL1 Sarah Leigh Source Expert Review Green was added to PPIL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 RALGAPA1 Sarah Leigh Source Expert Review Green was added to RALGAPA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 PIGK Sarah Leigh Source Expert Review Green was added to PIGK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 GAD1 Sarah Leigh Source Expert Review Green was added to GAD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 CEP85L Sarah Leigh Source Expert Review Green was added to CEP85L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 CDK19 Sarah Leigh Source Expert Review Green was added to CDK19.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 CACNB4 Sarah Leigh Source Expert Review Green was added to CACNB4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 ANKRD11 Sarah Leigh Source Expert Review Green was added to ANKRD11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 ASNS Sarah Leigh Source Expert Review Green was added to ASNS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.490 APC2 Sarah Leigh Source Expert Review Green was added to APC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v1.212 HPRT1 Sarah Leigh Tag Q4_21_expert_review was removed from gene: HPRT1.
Tag Q4_21_rating was removed from gene: HPRT1.
Childhood onset dystonia, chorea or related movement disorder v1.212 DHDDS Sarah Leigh Tag Q4_21_rating was removed from gene: DHDDS.
Childhood onset dystonia, chorea or related movement disorder v1.212 ALDH18A1 Sarah Leigh Tag Q2_21_phenotype was removed from gene: ALDH18A1.
Tag Q2_21_expert_review was removed from gene: ALDH18A1.
Childhood onset dystonia, chorea or related movement disorder v1.212 C9orf72 Sarah Leigh Tag Q4_21_MOI was removed from gene: C9orf72.
Tag Q4_21_rating was removed from gene: C9orf72.
Tag Q4_21_NHS_review was removed from gene: C9orf72.
Childhood onset dystonia, chorea or related movement disorder v1.212 CAMK4 Sarah Leigh Tag Q3_21_rating was removed from gene: CAMK4.
Childhood onset dystonia, chorea or related movement disorder v1.212 CLPB Sarah Leigh Tag Q4_21_MOI was removed from gene: CLPB.
Childhood onset dystonia, chorea or related movement disorder v1.212 CSTB Sarah Leigh Tag Q2_21_phenotype was removed from gene: CSTB.
Tag Q2_21_expert_review was removed from gene: CSTB.
Childhood onset dystonia, chorea or related movement disorder v1.212 FITM2 Sarah Leigh Tag Q2_21_rating was removed from gene: FITM2.
Childhood onset dystonia, chorea or related movement disorder v1.212 FOXG1 Sarah Leigh Tag Q2_21_rating was removed from gene: FOXG1.
Childhood onset dystonia, chorea or related movement disorder v1.212 FUCA1 Sarah Leigh Tag Q2_21_rating was removed from gene: FUCA1.
Childhood onset dystonia, chorea or related movement disorder v1.212 GLRB Sarah Leigh Tag Q2_21_rating was removed from gene: GLRB.
Childhood onset dystonia, chorea or related movement disorder v1.212 GNB1 Sarah Leigh Tag Q3_21_rating was removed from gene: GNB1.
Childhood onset dystonia, chorea or related movement disorder v1.212 GRIN1 Sarah Leigh Tag Q3_21_rating was removed from gene: GRIN1.
Childhood onset dystonia, chorea or related movement disorder v1.212 IMPDH2 Sarah Leigh Tag Q3_21_rating was removed from gene: IMPDH2.
Childhood onset dystonia, chorea or related movement disorder v1.212 IRF2BPL Sarah Leigh Tag Q2_21_rating was removed from gene: IRF2BPL.
Childhood onset dystonia, chorea or related movement disorder v1.212 MED27 Sarah Leigh Tag Q2_21_rating was removed from gene: MED27.
Childhood onset dystonia, chorea or related movement disorder v1.212 SCN1A Sarah Leigh Tag Q2_21_phenotype was removed from gene: SCN1A.
Childhood onset dystonia, chorea or related movement disorder v1.212 SLC16A2 Sarah Leigh Tag Q3_21_rating was removed from gene: SLC16A2.
Childhood onset dystonia, chorea or related movement disorder v1.212 TARS2 Sarah Leigh Tag Q4_21_rating was removed from gene: TARS2.
Childhood onset dystonia, chorea or related movement disorder v1.212 UBTF Sarah Leigh Tag Q2_21_rating was removed from gene: UBTF.
Childhood onset dystonia, chorea or related movement disorder v1.212 VPS16 Sarah Leigh Tag Q2_21_rating was removed from gene: VPS16.
Childhood onset dystonia, chorea or related movement disorder v1.212 VPS41 Sarah Leigh Tag Q2_21_rating was removed from gene: VPS41.
Clefting v2.63 POLR1B Eleanor Williams Tag for-review was removed from gene: POLR1B.
Clefting v2.63 MED25 Eleanor Williams Tag for-review was removed from gene: MED25.
Clefting v2.63 HYAL2 Eleanor Williams Tag for-review was removed from gene: HYAL2.
Clefting v2.63 MAPRE2 Eleanor Williams commented on gene: MAPRE2
Clefting v2.63 POLR1B Eleanor Williams commented on gene: POLR1B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Clefting v2.63 MED25 Eleanor Williams commented on gene: MED25: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Clefting v2.63 HYAL2 Eleanor Williams commented on gene: HYAL2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v1.212 VPS41 Sarah Leigh commented on gene: VPS41
Childhood onset dystonia, chorea or related movement disorder v1.212 VPS16 Sarah Leigh commented on gene: VPS16
Childhood onset dystonia, chorea or related movement disorder v1.212 UBTF Sarah Leigh commented on gene: UBTF
Childhood onset dystonia, chorea or related movement disorder v1.212 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 v1.212 SLC16A2 Sarah Leigh commented on gene: SLC16A2
Childhood onset dystonia, chorea or related movement disorder v1.212 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 v1.212 MED27 Sarah Leigh commented on gene: MED27
Childhood onset dystonia, chorea or related movement disorder v1.212 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 v1.212 IMPDH2 Sarah Leigh commented on gene: IMPDH2
Childhood onset dystonia, chorea or related movement disorder v1.212 HPRT1 Sarah Leigh commented on gene: HPRT1
Childhood onset dystonia, chorea or related movement disorder v1.212 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 v1.212 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 v1.212 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 v1.212 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 v1.212 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 v1.212 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 v1.212 DHDDS Sarah Leigh commented on gene: DHDDS
Childhood onset dystonia, chorea or related movement disorder v1.212 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 v1.212 CLPB Sarah Leigh commented on gene: CLPB
Childhood onset dystonia, chorea or related movement disorder v1.212 CAMK4 Sarah Leigh commented on gene: CAMK4
Childhood onset dystonia, chorea or related movement disorder v1.212 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 v1.212 ALDH18A1 Sarah Leigh commented on gene: ALDH18A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Clefting v2.62 MAPRE2 Eleanor Williams Source Expert list was added to MAPRE2.
Clefting v2.62 POLR1B Eleanor Williams Source Expert Review Green was added to POLR1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Clefting v2.62 MED25 Eleanor Williams Source Expert Review Green was added to MED25.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Clefting v2.62 HYAL2 Eleanor Williams Source Expert Review Green was added to HYAL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v1.211 VPS41 Sarah Leigh Source Expert Review Green was added to VPS41.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v1.211 VPS16 Sarah Leigh Source Expert Review Green was added to VPS16.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v1.211 UBTF Sarah Leigh Source Expert Review Green was added to UBTF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v1.211 TARS2 Sarah Leigh Source Expert Review Green was added to TARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v1.211 SLC16A2 Sarah Leigh Source Expert Review Green was added to SLC16A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v1.211 SCN1A Sarah Leigh Source Expert Review Green was added to SCN1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v1.211 MED27 Sarah Leigh Source Expert Review Green was added to MED27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v1.211 IRF2BPL Sarah Leigh Source Expert Review Green was added to IRF2BPL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v1.211 IMPDH2 Sarah Leigh Source Expert Review Green was added to IMPDH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Albinism or congenital nystagmus v1.22 LAMA1 Ivone Leong Tag for-review was removed from gene: LAMA1.
Childhood onset dystonia, chorea or related movement disorder v1.211 HPRT1 Sarah Leigh Source Expert Review Green was added to HPRT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v1.211 GRIN1 Sarah Leigh Source Expert Review Green was added to GRIN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v1.211 GNB1 Sarah Leigh Source Expert Review Green was added to GNB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v1.211 GLRB Sarah Leigh Source Expert Review Green was added to GLRB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v1.211 FUCA1 Sarah Leigh Source Expert Review Green was added to FUCA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v1.211 FOXG1 Sarah Leigh Source Expert Review Green was added to FOXG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v1.211 FITM2 Sarah Leigh Source Expert Review Green was added to FITM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v1.211 DHDDS Sarah Leigh Source Expert Review Green was added to DHDDS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v1.211 CLPB Sarah Leigh Source NHS GMS was added to CLPB.
Mode of inheritance for gene CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v1.211 CAMK4 Sarah Leigh Source Expert Review Green was added to CAMK4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v1.211 C9orf72 Sarah Leigh Source Expert Review Red was added to C9orf72.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Albinism or congenital nystagmus v1.22 BLOC1S6 Ivone Leong Tag for-review was removed from gene: BLOC1S6.
Albinism or congenital nystagmus v1.22 BLOC1S3 Ivone Leong Tag for-review was removed from gene: BLOC1S3.
Albinism or congenital nystagmus v1.22 DCT Ivone Leong Tag for-review was removed from gene: DCT.
Albinism or congenital nystagmus v1.22 BLOC1S5 Ivone Leong Tag for-review was removed from gene: BLOC1S5.
Albinism or congenital nystagmus v1.22 LAMA1 Ivone Leong commented on gene: LAMA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Albinism or congenital nystagmus v1.22 BLOC1S6 Ivone Leong commented on gene: BLOC1S6
Albinism or congenital nystagmus v1.22 BLOC1S3 Ivone Leong commented on gene: BLOC1S3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Albinism or congenital nystagmus v1.22 DCT Ivone Leong commented on gene: DCT: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Albinism or congenital nystagmus v1.22 BLOC1S5 Ivone Leong commented on gene: BLOC1S5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Albinism or congenital nystagmus v1.21 LAMA1 Ivone Leong Source Expert Review Green was added to LAMA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Albinism or congenital nystagmus v1.21 BLOC1S6 Ivone Leong Source Expert Review Green was added to BLOC1S6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Albinism or congenital nystagmus v1.21 BLOC1S3 Ivone Leong Source Expert Review Green was added to BLOC1S3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Albinism or congenital nystagmus v1.21 DCT Ivone Leong Source Expert Review Green was added to DCT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Albinism or congenital nystagmus v1.21 BLOC1S5 Ivone Leong Source Expert Review Green was added to BLOC1S5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.836 ZSWIM6 Arina Puzriakova Tag for-review was removed from gene: ZSWIM6.
Fetal anomalies v1.836 ZMYND10 Arina Puzriakova Tag for-review was removed from gene: ZMYND10.
Fetal anomalies v1.836 XYLT2 Arina Puzriakova Tag for-review was removed from gene: XYLT2.
Fetal anomalies v1.836 WDR81 Arina Puzriakova Tag for-review was removed from gene: WDR81.
Fetal anomalies v1.836 WDR73 Arina Puzriakova Tag for-review was removed from gene: WDR73.
Pancreatitis v2.12 CELA3B Ivone Leong Tag Q2_21_rating was removed from gene: CELA3B.
Tag Q2_21_NHS_review was removed from gene: CELA3B.
Fetal anomalies v1.836 VRK1 Arina Puzriakova Tag for-review was removed from gene: VRK1.
Fetal anomalies v1.836 VEGFC Arina Puzriakova Tag for-review was removed from gene: VEGFC.
Pancreatitis v2.12 CELA3B Ivone Leong commented on gene: CELA3B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 VAMP1 Arina Puzriakova Tag for-review was removed from gene: VAMP1.
Pancreatitis v2.11 CELA3B Ivone Leong Source Expert Review Green was added to CELA3B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.836 USP9X Arina Puzriakova Tag for-review was removed from gene: USP9X.
Fetal anomalies v1.836 USP18 Arina Puzriakova Tag for-review was removed from gene: USP18.
Fetal anomalies v1.836 UBE2T Arina Puzriakova Tag for-review was removed from gene: UBE2T.
Intestinal failure or congenital diarrhoea v1.46 CLMP Ivone Leong Tag Q2_21_rating was removed from gene: CLMP.
Tag Q2_21_NHS_review was removed from gene: CLMP.
Intestinal failure or congenital diarrhoea v1.46 FLNA Ivone Leong Tag Q2_21_rating was removed from gene: FLNA.
Tag Q2_21_NHS_review was removed from gene: FLNA.
Fetal anomalies v1.836 TXNDC15 Arina Puzriakova Tag for-review was removed from gene: TXNDC15.
Intestinal failure or congenital diarrhoea v1.46 FLNA Ivone Leong commented on gene: FLNA: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intestinal failure or congenital diarrhoea v1.46 CLMP Ivone Leong commented on gene: CLMP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intestinal failure or congenital diarrhoea v1.45 FLNA Ivone Leong Source Expert Review Green was added to FLNA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v1.45 CLMP Ivone Leong Source Expert Review Green was added to CLMP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.836 TUBGCP4 Arina Puzriakova Tag for-review was removed from gene: TUBGCP4.
Fetal anomalies v1.836 TUBG1 Arina Puzriakova Tag for-review was removed from gene: TUBG1.
Fetal anomalies v1.836 TUBB3 Arina Puzriakova Tag for-review was removed from gene: TUBB3.
Fetal anomalies v1.836 TSFM Arina Puzriakova Tag for-review was removed from gene: TSFM.
Fetal anomalies v1.836 TSEN34 Arina Puzriakova Tag for-review was removed from gene: TSEN34.
Fetal anomalies v1.836 TSEN2 Arina Puzriakova Tag for-review was removed from gene: TSEN2.
Fetal anomalies v1.836 TRMT10A Arina Puzriakova Tag for-review was removed from gene: TRMT10A.
Fetal anomalies v1.836 TRAPPC12 Arina Puzriakova changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TRAPPC12 Arina Puzriakova edited their review of gene: TRAPPC12: Changed rating: GREEN
Fetal anomalies v1.836 TRAPPC12 Arina Puzriakova Tag watchlist was removed from gene: TRAPPC12.
Fetal anomalies v1.836 TRAP1 Arina Puzriakova Tag for-review was removed from gene: TRAP1.
Fetal anomalies v1.836 TRAIP Arina Puzriakova Tag for-review was removed from gene: TRAIP.
Fetal anomalies v1.836 TRAF3IP1 Arina Puzriakova Tag for-review was removed from gene: TRAF3IP1.
Fetal anomalies v1.836 TOR1A Arina Puzriakova Tag for-review was removed from gene: TOR1A.
Fetal anomalies v1.836 TOE1 Arina Puzriakova Tag for-review was removed from gene: TOE1.
Fetal anomalies v1.836 TNNT3 Arina Puzriakova Tag for-review was removed from gene: TNNT3.
Fetal anomalies v1.836 TMX2 Arina Puzriakova Tag for-review was removed from gene: TMX2.
Fetal anomalies v1.836 TMEM98 Arina Puzriakova Tag for-review was removed from gene: TMEM98.
Fetal anomalies v1.836 TMEM38B Arina Puzriakova Tag for-review was removed from gene: TMEM38B.
Fetal anomalies v1.836 TMEM216 Arina Puzriakova Tag for-review was removed from gene: TMEM216.
Fetal anomalies v1.836 TMEM107 Arina Puzriakova Tag for-review was removed from gene: TMEM107.
Fetal anomalies v1.836 TENM3 Arina Puzriakova Tag for-review was removed from gene: TENM3.
Fetal anomalies v1.836 TELO2 Arina Puzriakova Tag for-review was removed from gene: TELO2.
Cholestasis v1.105 TRMU Ivone Leong Tag for-review was removed from gene: TRMU.
Tag Q1_22_NHS_review was removed from gene: TRMU.
Fetal anomalies v1.836 TCTEX1D2 Arina Puzriakova Tag for-review was removed from gene: TCTEX1D2.
Fetal anomalies v1.836 TBC1D32 Arina Puzriakova Tag for-review was removed from gene: TBC1D32.
Cholestasis v1.105 SMPD1 Ivone Leong Tag for-review was removed from gene: SMPD1.
Tag Q1_22_NHS_review was removed from gene: SMPD1.
Fetal anomalies v1.836 SULT2B1 Arina Puzriakova Tag for-review was removed from gene: SULT2B1.
Fetal anomalies v1.836 SUFU Arina Puzriakova Tag watchlist was removed from gene: SUFU.
Tag for-review was removed from gene: SUFU.
Cholestasis v1.105 RINT1 Ivone Leong Tag for-review was removed from gene: RINT1.
Tag Q1_22_NHS_review was removed from gene: RINT1.
Cholestasis v1.105 POLG Ivone Leong Tag for-review was removed from gene: POLG.
Tag Q1_22_NHS_review was removed from gene: POLG.
Fetal anomalies v1.836 STRADA Arina Puzriakova Tag for-review was removed from gene: STRADA.
Cholestasis v1.105 MVK Ivone Leong Tag for-review was removed from gene: MVK.
Tag Q1_22_NHS_review was removed from gene: MVK.
Fetal anomalies v1.836 STIL Arina Puzriakova Tag for-review was removed from gene: STIL.
Fetal anomalies v1.836 STAC3 Arina Puzriakova Tag for-review was removed from gene: STAC3.
Cholestasis v1.105 MPI Ivone Leong Tag for-review was removed from gene: MPI.
Tag Q4_21_NHS_review was removed from gene: MPI.
Fetal anomalies v1.836 ST14 Arina Puzriakova Tag for-review was removed from gene: ST14.
Cholestasis v1.105 LIPA Ivone Leong Tag for-review was removed from gene: LIPA.
Tag Q4_21_NHS_review was removed from gene: LIPA.
Fetal anomalies v1.836 SPECC1L Arina Puzriakova Tag for-review was removed from gene: SPECC1L.
Cholestasis v1.105 HADHA Ivone Leong Tag for-review was removed from gene: HADHA.
Tag Q1_22_NHS_review was removed from gene: HADHA.
Fetal anomalies v1.836 SPARC Arina Puzriakova Tag for-review was removed from gene: SPARC.
Fetal anomalies v1.836 SP7 Arina Puzriakova Tag for-review was removed from gene: SP7.
Cholestasis v1.105 GBE1 Ivone Leong Tag for-review was removed from gene: GBE1.
Fetal anomalies v1.836 SOX6 Arina Puzriakova Tag for-review was removed from gene: SOX6.
Fetal anomalies v1.836 SOX18 Arina Puzriakova Tag for-review was removed from gene: SOX18.
Cholestasis v1.105 CFTR Ivone Leong Tag for-review was removed from gene: CFTR.
Tag Q4_21_NHS_review was removed from gene: CFTR.
Fetal anomalies v1.836 SNX10 Arina Puzriakova Tag for-review was removed from gene: SNX10.
Fetal anomalies v1.836 SMS Arina Puzriakova Tag for-review was removed from gene: SMS.
Cholestasis v1.105 ADK Ivone Leong Tag for-review was removed from gene: ADK.
Tag Q4_21_NHS_review was removed from gene: ADK.
Fetal anomalies v1.836 SMPD4 Arina Puzriakova Tag for-review was removed from gene: SMPD4.
Cholestasis v1.105 NBAS Ivone Leong Tag for-review was removed from gene: NBAS.
Tag Q1_22_NHS_review was removed from gene: NBAS.
Cholestasis v1.105 GALK1 Ivone Leong Tag for-review was removed from gene: GALK1.
Cholestasis v1.105 GALE Ivone Leong Tag for-review was removed from gene: GALE.
Tag Q1_22_NHS_review was removed from gene: GALE.
Cholestasis v1.105 ZFYVE19 Ivone Leong Tag for-review was removed from gene: ZFYVE19.
Cholestasis v1.105 YARS Ivone Leong Tag watchlist was removed from gene: YARS.
Tag for-review was removed from gene: YARS.
Cholestasis v1.105 USP53 Ivone Leong Tag for-review was removed from gene: USP53.
Cholestasis v1.105 UNC45A Ivone Leong Tag for-review was removed from gene: UNC45A.
Cholestasis v1.105 PKHD1 Ivone Leong Tag for-review was removed from gene: PKHD1.
Cholestasis v1.105 MPV17 Ivone Leong Tag for-review was removed from gene: MPV17.
Cholestasis v1.105 KIF12 Ivone Leong Tag for-review was removed from gene: KIF12.
Cholestasis v1.105 HNF1B Ivone Leong Tag for-review was removed from gene: HNF1B.
Cholestasis v1.105 GBA Ivone Leong Tag for-review was removed from gene: GBA.
Cholestasis v1.105 GALT Ivone Leong Tag for-review was removed from gene: GALT.
Cholestasis v1.105 GALM Ivone Leong Tag for-review was removed from gene: GALM.
Cholestasis v1.105 DGUOK Ivone Leong Tag for-review was removed from gene: DGUOK.
Cholestasis v1.105 CYP7B1 Ivone Leong Tag for-review was removed from gene: CYP7B1.
Cholestasis v1.105 COG7 Ivone Leong Tag for-review was removed from gene: COG7.
Cholestasis v1.105 ATP7B Ivone Leong Tag for-review was removed from gene: ATP7B.
Cholestasis v1.105 TRMU Ivone Leong commented on gene: TRMU: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 SMPD1 Ivone Leong commented on gene: SMPD1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 RINT1 Ivone Leong commented on gene: RINT1
Cholestasis v1.105 POLG Ivone Leong commented on gene: POLG: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 MVK Ivone Leong commented on gene: MVK: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 MPI Ivone Leong commented on gene: MPI: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 LIPA Ivone Leong commented on gene: LIPA: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 HADHA Ivone Leong commented on gene: HADHA: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 GBE1 Ivone Leong commented on gene: GBE1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 CFTR Ivone Leong commented on gene: CFTR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 ADK Ivone Leong commented on gene: ADK: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 NBAS Ivone Leong commented on gene: NBAS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 GALK1 Ivone Leong commented on gene: GALK1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 GALE Ivone Leong commented on gene: GALE: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 ZFYVE19 Ivone Leong commented on gene: ZFYVE19
Cholestasis v1.105 YARS Ivone Leong commented on gene: YARS
Cholestasis v1.105 USP53 Ivone Leong commented on gene: USP53: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 UNC45A Ivone Leong commented on gene: UNC45A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 PKHD1 Ivone Leong commented on gene: PKHD1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 MPV17 Ivone Leong commented on gene: MPV17: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 KIF12 Ivone Leong commented on gene: KIF12: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 HNF1B Ivone Leong commented on gene: HNF1B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 GBA Ivone Leong commented on gene: GBA: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 GALT Ivone Leong commented on gene: GALT: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 GALM Ivone Leong commented on gene: GALM: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 DGUOK Ivone Leong commented on gene: DGUOK: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 CYP7B1 Ivone Leong commented on gene: CYP7B1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 COG7 Ivone Leong commented on gene: COG7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 ATP7B Ivone Leong commented on gene: ATP7B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.104 TRMU Ivone Leong Source Expert Review Green was added to TRMU.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 SMPD1 Ivone Leong Source Expert Review Green was added to SMPD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 RINT1 Ivone Leong Source Expert Review Green was added to RINT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 POLG Ivone Leong Source Expert Review Green was added to POLG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 MVK Ivone Leong Source Expert Review Green was added to MVK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 MPI Ivone Leong Source Expert Review Green was added to MPI.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 LIPA Ivone Leong Source Expert Review Green was added to LIPA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 HADHA Ivone Leong Source Expert Review Green was added to HADHA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 GBE1 Ivone Leong Source Expert Review Green was added to GBE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 CFTR Ivone Leong Source Expert Review Green was added to CFTR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 ADK Ivone Leong Source Expert Review Green was added to ADK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 NBAS Ivone Leong Source Expert Review Green was added to NBAS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 GALK1 Ivone Leong Source Expert Review Green was added to GALK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 GALE Ivone Leong Source Expert Review Green was added to GALE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 ZFYVE19 Ivone Leong Source Expert Review Green was added to ZFYVE19.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 YARS Ivone Leong Source Expert Review Green was added to YARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 USP53 Ivone Leong Source Expert Review Green was added to USP53.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 UNC45A Ivone Leong Source Expert Review Green was added to UNC45A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 PKHD1 Ivone Leong Source Expert Review Green was added to PKHD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 MPV17 Ivone Leong Source Expert Review Green was added to MPV17.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 KIF12 Ivone Leong Source Expert Review Green was added to KIF12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 HNF1B Ivone Leong Source Expert Review Green was added to HNF1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 GBA Ivone Leong Source Expert Review Green was added to GBA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 GALT Ivone Leong Source Expert Review Green was added to GALT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 GALM Ivone Leong Source Expert Review Green was added to GALM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 DGUOK Ivone Leong Source Expert Review Green was added to DGUOK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 CYP7B1 Ivone Leong Source Expert Review Green was added to CYP7B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 COG7 Ivone Leong Source Expert Review Green was added to COG7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 ATP7B Ivone Leong Source Expert Review Green was added to ATP7B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v2.283 LARS2 Sarah Leigh Tag for-review was removed from gene: LARS2.
Ataxia and cerebellar anomalies - narrow panel v2.283 LARS2 Sarah Leigh Source Expert Review Green was added to LARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v2.282 LARS2 Sarah Leigh commented on gene: LARS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval
Fetal anomalies v1.836 SMG9 Arina Puzriakova Tag for-review was removed from gene: SMG9.
Fetal anomalies v1.836 SMARCE1 Arina Puzriakova Tag Q4_21_rating was removed from gene: SMARCE1.
Fetal anomalies v1.836 SMARCC1 Arina Puzriakova Tag Q2_21_rating was removed from gene: SMARCC1.
Fetal anomalies v1.836 SLC6A9 Arina Puzriakova Tag Q4_21_rating was removed from gene: SLC6A9.
Fetal anomalies v1.836 SLC5A7 Arina Puzriakova Tag for-review was removed from gene: SLC5A7.
Fetal anomalies v1.836 SLC29A3 Arina Puzriakova Tag for-review was removed from gene: SLC29A3.
Fetal anomalies v1.836 SLC25A19 Arina Puzriakova Tag for-review was removed from gene: SLC25A19.
Fetal anomalies v1.836 SLC18A3 Arina Puzriakova Tag for-review was removed from gene: SLC18A3.
Fetal anomalies v1.836 SIX6 Arina Puzriakova Tag for-review was removed from gene: SIX6.
Fetal anomalies v1.836 SHANK3 Arina Puzriakova Tag for-review was removed from gene: SHANK3.
Fetal anomalies v1.836 SGCG Arina Puzriakova Tag for-review was removed from gene: SGCG.
Fetal anomalies v1.836 SERPINH1 Arina Puzriakova Tag for-review was removed from gene: SERPINH1.
Fetal anomalies v1.836 SERPINF1 Arina Puzriakova Tag for-review was removed from gene: SERPINF1.
Fetal anomalies v1.836 SEC24D Arina Puzriakova Tag for-review was removed from gene: SEC24D.
Fetal anomalies v1.836 SDR9C7 Arina Puzriakova Tag for-review was removed from gene: SDR9C7.
Fetal anomalies v1.836 SCN1A Arina Puzriakova Tag for-review was removed from gene: SCN1A.
Fetal anomalies v1.836 SCLT1 Arina Puzriakova Tag for-review was removed from gene: SCLT1.
Fetal anomalies v1.836 RSPH9 Arina Puzriakova Tag for-review was removed from gene: RSPH9.
Fetal anomalies v1.836 RSPH4A Arina Puzriakova Tag for-review was removed from gene: RSPH4A.
Fetal anomalies v1.836 RRAS2 Arina Puzriakova Tag for-review was removed from gene: RRAS2.
Fetal anomalies v1.836 RPS7 Arina Puzriakova Tag for-review was removed from gene: RPS7.
Fetal anomalies v1.836 RPS24 Arina Puzriakova Tag for-review was removed from gene: RPS24.
Fetal anomalies v1.836 RPL35A Arina Puzriakova Tag for-review was removed from gene: RPL35A.
Fetal anomalies v1.836 RPL10 Arina Puzriakova Tag for-review was removed from gene: RPL10.
Fetal anomalies v1.836 ROBO3 Arina Puzriakova Tag for-review was removed from gene: ROBO3.
Fetal anomalies v1.836 RFT1 Arina Puzriakova Tag for-review was removed from gene: RFT1.
Fetal anomalies v1.836 RBM10 Arina Puzriakova Tag for-review was removed from gene: RBM10.
Fetal anomalies v1.836 RBBP8 Arina Puzriakova Tag for-review was removed from gene: RBBP8.
Arthrogryposis v3.150 ERCC5 Sarah Leigh Tag for-review was removed from gene: ERCC5.
Arthrogryposis v3.150 LMX1B Sarah Leigh Tag for-review was removed from gene: LMX1B.
Severe early-onset obesity v2.48 PHF6 Ivone Leong Tag Q4_21_MOI was removed from gene: PHF6.
Arthrogryposis v3.150 ADCY6 Sarah Leigh Tag for-review was removed from gene: ADCY6.
Arthrogryposis v3.150 TOR1AIP1 Sarah Leigh Tag for-review was removed from gene: TOR1AIP1.
Severe early-onset obesity v2.48 PHF6 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.
Arthrogryposis v3.150 SCN1A Sarah Leigh Tag for-review was removed from gene: SCN1A.
Severe early-onset obesity v2.48 PHIP Ivone Leong Tag Q3_21_rating was removed from gene: PHIP.
Tag Q3_21_NHS_review was removed from gene: PHIP.
Arthrogryposis v3.150 NEK9 Sarah Leigh Tag for-review was removed from gene: NEK9.
Arthrogryposis v3.150 FLNC Sarah Leigh Tag for-review was removed from gene: FLNC.
Severe early-onset obesity v2.48 PHIP Ivone Leong commented on gene: PHIP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Severe early-onset obesity v2.48 PHF6 Ivone Leong commented on gene: PHF6: The mode of inheritance of this gene has been updated followingNHS Genomic Medicine Service approval.
Severe early-onset obesity v2.47 PHIP Ivone Leong Source Expert Review Green was added to PHIP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe early-onset obesity v2.47 PHF6 Ivone Leong 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)
Arthrogryposis v3.150 ATP1A2 Sarah Leigh Tag for-review was removed from gene: ATP1A2.
Fetal anomalies v1.836 RAB33B Arina Puzriakova Tag for-review was removed from gene: RAB33B.
Fetal anomalies v1.836 PYGM Arina Puzriakova Tag for-review was removed from gene: PYGM.
Arthrogryposis v3.150 MYH7 Sarah Leigh Tag for-review was removed from gene: MYH7.
Fetal anomalies v1.836 PTPN14 Arina Puzriakova Tag for-review was removed from gene: PTPN14.
Arthrogryposis v3.150 MYH2 Sarah Leigh Tag for-review was removed from gene: MYH2.
Arthrogryposis v3.150 MYH2 Sarah Leigh commented on gene: MYH2
Arthrogryposis v3.150 MYH7 Sarah Leigh commented on gene: MYH7
Arthrogryposis v3.150 ATP1A2 Sarah Leigh commented on gene: ATP1A2
Arthrogryposis v3.150 FLNC Sarah Leigh commented on gene: FLNC
Arthrogryposis v3.150 NEK9 Sarah Leigh commented on gene: NEK9
Arthrogryposis v3.150 SCN1A Sarah Leigh commented on gene: SCN1A
Arthrogryposis v3.150 TOR1AIP1 Sarah Leigh commented on gene: TOR1AIP1
Arthrogryposis v3.150 ADCY6 Sarah Leigh commented on gene: ADCY6
Arthrogryposis v3.150 LMX1B Sarah Leigh commented on gene: LMX1B
Arthrogryposis v3.150 ERCC5 Sarah Leigh commented on gene: ERCC5
Arthrogryposis v3.149 MYH2 Sarah Leigh Source Expert Review Red was added to MYH2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Arthrogryposis v3.149 MYH7 Sarah Leigh Source Expert Review Red was added to MYH7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Arthrogryposis v3.149 ATP1A2 Sarah Leigh Source Expert Review Green was added to ATP1A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.149 FLNC Sarah Leigh Source Expert Review Green was added to FLNC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.149 NEK9 Sarah Leigh Source Expert Review Green was added to NEK9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.149 SCN1A Sarah Leigh Source Expert Review Green was added to SCN1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.149 TOR1AIP1 Sarah Leigh Source Expert Review Green was added to TOR1AIP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.149 ADCY6 Sarah Leigh Source Expert Review Green was added to ADCY6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.149 LMX1B Sarah Leigh Source Expert Review Green was added to LMX1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.149 ERCC5 Sarah Leigh Source Expert Review Green was added to ERCC5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.23 NF1 Ivone Leong Tag Q2_21_rating was removed from gene: NF1.
Tag Q2_21_phenotype was removed from gene: NF1.
Tag Q2_21_NHS_review was removed from gene: NF1.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.23 EPAS1 Ivone Leong Tag Q2_21_rating was removed from gene: EPAS1.
Tag Q2_21_phenotype was removed from gene: EPAS1.
Tag Q2_21_NHS_review was removed from gene: EPAS1.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.23 NF1 Ivone Leong commented on gene: NF1: Submitted on behalf of NHS GMS "No. Has been discussed previously and agreed this should not be part of this panel. It is a seperate entity"
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.23 EPAS1 Ivone Leong commented on gene: EPAS1: Submitted on behalf of NHS GMS "No - Think the EPAS1 mutations associated with PCC are generally somatic not germline. https://pubmed.ncbi.nlm.nih.gov/33300499/ describes some germline variants but describes them as hypomorphic so not sure its ready to be elevated amber gene"
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.23 NF1 Ivone Leong commented on gene: NF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.23 EPAS1 Ivone Leong commented on gene: EPAS1: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.22 NF1 Ivone Leong Source Expert Review Red was added to NF1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v1.836 PSAT1 Arina Puzriakova Tag for-review was removed from gene: PSAT1.
Fetal anomalies v1.836 PRUNE1 Arina Puzriakova Tag for-review was removed from gene: PRUNE1.
Fetal anomalies v1.836 PRKAG2 Arina Puzriakova Tag for-review was removed from gene: PRKAG2.
Fetal anomalies v1.836 PRIM1 Arina Puzriakova Tag Q4_21_rating was removed from gene: PRIM1.
Fetal anomalies v1.836 POP1 Arina Puzriakova Tag for-review was removed from gene: POP1.
Fetal anomalies v1.836 POLR1B Arina Puzriakova Tag Q4_21_rating was removed from gene: POLR1B.
Fetal anomalies v1.836 POLR1A Arina Puzriakova Tag for-review was removed from gene: POLR1A.
Fetal anomalies v1.836 POLG2 Arina Puzriakova Tag for-review was removed from gene: POLG2.
Fetal anomalies v1.836 POLE Arina Puzriakova Tag for-review was removed from gene: POLE.
Fetal anomalies v1.836 PNPLA1 Arina Puzriakova Tag for-review was removed from gene: PNPLA1.
Fetal anomalies v1.836 PLG Arina Puzriakova Tag for-review was removed from gene: PLG.
Fetal anomalies v1.836 PLAG1 Arina Puzriakova Tag for-review was removed from gene: PLAG1.
Fetal anomalies v1.836 PITX1 Arina Puzriakova Tag for-review was removed from gene: PITX1.
Fetal anomalies v1.836 PIK3C2A Arina Puzriakova Tag for-review was removed from gene: PIK3C2A.
Fetal anomalies v1.836 PIH1D3 Arina Puzriakova Tag for-review was removed from gene: PIH1D3.
Fetal anomalies v1.836 PIGN Arina Puzriakova Tag for-review was removed from gene: PIGN.
Fetal anomalies v1.836 PIBF1 Arina Puzriakova Tag for-review was removed from gene: PIBF1.
Fetal anomalies v1.836 PGM3 Arina Puzriakova Tag for-review was removed from gene: PGM3.
Fetal anomalies v1.836 PFKM Arina Puzriakova Tag for-review was removed from gene: PFKM.
Fetal anomalies v1.836 PBX1 Arina Puzriakova Tag for-review was removed from gene: PBX1.
Fetal anomalies v1.836 PAX7 Arina Puzriakova Tag for-review was removed from gene: PAX7.
Fetal anomalies v1.836 P4HB Arina Puzriakova Tag for-review was removed from gene: P4HB.
Possible mitochondrial disorder - nuclear genes v1.67 NDUFC2 Sarah Leigh Tag for-review was removed from gene: NDUFC2.
Possible mitochondrial disorder - nuclear genes v1.67 COX4I1 Sarah Leigh Tag for-review was removed from gene: COX4I1.
Fetal anomalies v1.836 OSGEP Arina Puzriakova Tag for-review was removed from gene: OSGEP.
Fetal anomalies v1.836 NXN Arina Puzriakova Tag for-review was removed from gene: NXN.
Possible mitochondrial disorder - nuclear genes v1.67 SQOR Sarah Leigh Tag for-review was removed from gene: SQOR.
Possible mitochondrial disorder - nuclear genes v1.67 SQOR Sarah Leigh commented on gene: SQOR: Comment from NHS Genomic Medicine Service patients have Leigh syndrome like brain lesions and encephalopathy as well as lactic acidosisand decreased mitochondrial respiratory chain complex IV in tissue.
Possible mitochondrial disorder - nuclear genes v1.67 COX4I1 Sarah Leigh commented on gene: COX4I1
Possible mitochondrial disorder - nuclear genes v1.67 NDUFC2 Sarah Leigh commented on gene: NDUFC2: The rating of this gene has been updated following NHS Genomic Medicine Service approval
Possible mitochondrial disorder - nuclear genes v1.67 SQOR Sarah Leigh commented on gene: SQOR: The rating of this gene has been updated following NHS Genomic Medicine Service approval
Possible mitochondrial disorder - nuclear genes v1.66 COX4I1 Sarah Leigh Source Expert Review Green was added to COX4I1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v1.66 NDUFC2 Sarah Leigh Source Expert Review Green was added to NDUFC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v1.66 SQOR Sarah Leigh Source Expert Review Green was added to SQOR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.836 NIPAL4 Arina Puzriakova Tag for-review was removed from gene: NIPAL4.
Fetal anomalies v1.836 NEK8 Arina Puzriakova Tag for-review was removed from gene: NEK8.
Neonatal diabetes v2.37 YIPF5 Ivone Leong Tag Q2_21_rating was removed from gene: YIPF5.
Fetal anomalies v1.836 NEDD4L Arina Puzriakova Tag for-review was removed from gene: NEDD4L.
Fetal anomalies v1.836 NECTIN1 Arina Puzriakova Tag for-review was removed from gene: NECTIN1.
Neonatal diabetes v2.37 YIPF5 Ivone Leong commented on gene: YIPF5
Fetal anomalies v1.836 NADSYN1 Arina Puzriakova Tag for-review was removed from gene: NADSYN1.
Neonatal diabetes v2.36 YIPF5 Ivone Leong Source Expert Review Green was added to YIPF5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.836 MYPN Arina Puzriakova Tag for-review was removed from gene: MYPN.
Fetal anomalies v1.836 MYOCD Arina Puzriakova Tag for-review was removed from gene: MYOCD.
Fetal anomalies v1.836 MYO9A Arina Puzriakova Tag for-review was removed from gene: MYO9A.
Fetal anomalies v1.836 MYO18B Arina Puzriakova Tag for-review was removed from gene: MYO18B.
Fetal anomalies v1.836 MYMK Arina Puzriakova Tag for-review was removed from gene: MYMK.
Fetal anomalies v1.836 MYL1 Arina Puzriakova Tag for-review was removed from gene: MYL1.
Fetal anomalies v1.836 MYH7 Arina Puzriakova Tag for-review was removed from gene: MYH7.
Fetal anomalies v1.836 MYH2 Arina Puzriakova Tag for-review was removed from gene: MYH2.
Severe insulin resistance and lipodystrophy syndromes v2.21 MTX2 Ivone Leong Tag for-review was removed from gene: MTX2.
Fetal anomalies v1.836 MSTO1 Arina Puzriakova Tag for-review was removed from gene: MSTO1.
Fetal anomalies v1.836 MSMO1 Arina Puzriakova Tag for-review was removed from gene: MSMO1.
Severe insulin resistance and lipodystrophy syndromes v2.21 MTX2 Ivone Leong commented on gene: MTX2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MRAS Arina Puzriakova Tag for-review was removed from gene: MRAS.
Severe insulin resistance and lipodystrophy syndromes v2.20 MTX2 Ivone Leong Source Expert Review Green was added to MTX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.836 MOGS Arina Puzriakova Tag for-review was removed from gene: MOGS.
Fetal anomalies v1.836 MN1 Arina Puzriakova Tag for-review was removed from gene: MN1.
Tag Q4_21_rating was removed from gene: MN1.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.21 SLC25A11 Ivone Leong Tag for-review was removed from gene: SLC25A11.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.21 MDH2 Ivone Leong Tag for-review was removed from gene: MDH2.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.21 DLST Ivone Leong Tag for-review was removed from gene: DLST.
Fetal anomalies v1.836 MESD Arina Puzriakova Tag for-review was removed from gene: MESD.
Fetal anomalies v1.836 MEOX1 Arina Puzriakova Tag for-review was removed from gene: MEOX1.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.21 SLC25A11 Ivone Leong commented on gene: SLC25A11: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.21 MDH2 Ivone Leong commented on gene: MDH2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.21 DLST Ivone Leong commented on gene: DLST: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.20 SLC25A11 Ivone Leong Source Expert Review Green was added to SLC25A11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.20 MDH2 Ivone Leong Source Expert Review Green was added to MDH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.20 DLST Ivone Leong Source Expert Review Green was added to DLST.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.836 MEIS2 Arina Puzriakova Tag for-review was removed from gene: MEIS2.
Fetal anomalies v1.836 MAP3K7 Arina Puzriakova Tag for-review was removed from gene: MAP3K7.
Fetal anomalies v1.836 MAP3K20 Arina Puzriakova Tag for-review was removed from gene: MAP3K20.
Fetal anomalies v1.836 MACF1 Arina Puzriakova Tag for-review was removed from gene: MACF1.
Fetal anomalies v1.836 LRRC56 Arina Puzriakova Tag for-review was removed from gene: LRRC56.
Fetal anomalies v1.836 LONP1 Arina Puzriakova Tag for-review was removed from gene: LONP1.
Fetal anomalies v1.836 LMNB2 Arina Puzriakova Tag Q4_21_rating was removed from gene: LMNB2.
Fetal anomalies v1.836 LMNB1 Arina Puzriakova Tag Q4_21_rating was removed from gene: LMNB1.
Fetal anomalies v1.836 LAMB1 Arina Puzriakova Tag for-review was removed from gene: LAMB1.
Hypophosphataemia or rickets v2.16 OCRL Ivone Leong Tag for-review was removed from gene: OCRL.
Hypophosphataemia or rickets v2.16 ALPL Ivone Leong Tag for-review was removed from gene: ALPL.
Hypophosphataemia or rickets v2.16 ALPL Ivone Leong commented on gene: ALPL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hypophosphataemia or rickets v2.16 OCRL Ivone Leong commented on gene: OCRL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hypophosphataemia or rickets v2.15 ALPL Ivone Leong Source Expert Review Green was added to ALPL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hypophosphataemia or rickets v2.15 OCRL Ivone Leong Source Expert Review Green was added to OCRL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorder with complex IV deficiency v1.13 SQOR Sarah Leigh Tag for-review was removed from gene: SQOR.
Tag Q2_21_rating was removed from gene: SQOR.
Mitochondrial disorder with complex IV deficiency v1.13 SQOR Sarah Leigh commented on gene: SQOR: The rating of this gene has been updated following NHS Genomic Medicine Service approval
Mitochondrial disorder with complex IV deficiency v1.13 COX4I1 Sarah Leigh commented on gene: COX4I1: Comment from NHS Genomic Medicine Service: patients have Leigh syndrome like brain lesions and encephalopathy as well as lactic acidosis and decreased mitochondrial respiratory chain complex IV in tissue.
Mitochondrial disorder with complex IV deficiency v1.13 COX4I1 Sarah Leigh Tag for-review was removed from gene: COX4I1.
Tag Q2_21_rating was removed from gene: COX4I1.
Hypogonadotropic hypogonadism (GMS) v1.50 NDNF Ivone Leong Tag for-review was removed from gene: NDNF.
Hypogonadotropic hypogonadism (GMS) v1.50 NDNF Ivone Leong commented on gene: NDNF: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hypogonadotropic hypogonadism (GMS) v1.49 NDNF Ivone Leong Source Expert Review Green was added to NDNF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorder with complex IV deficiency v1.13 COX4I1 Sarah Leigh commented on gene: COX4I1
Hyperthyroidism v2.13 TTR Ivone Leong Tag for-review was removed from gene: TTR.
Hyperthyroidism v2.13 TTR Ivone Leong commented on gene: TTR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hyperthyroidism v2.12 TTR Ivone Leong Source Expert Review Green was added to TTR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.237 DMXL2 Eleanor Williams Tag for-review was removed from gene: DMXL2.
Monogenic hearing loss v2.237 COL9A2 Eleanor Williams Tag for-review was removed from gene: COL9A2.
Mitochondrial disorder with complex IV deficiency v1.13 SQOR Sarah Leigh Source Expert Review Green was added to SQOR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorder with complex IV deficiency v1.13 COX4I1 Sarah Leigh Source Expert Review Green was added to COX4I1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.237 FOXI1 Eleanor Williams Tag Q1_22_MOI tag was added to gene: FOXI1.
Monogenic hearing loss v2.237 NARS2 Eleanor Williams Tag for-review was removed from gene: NARS2.
Monogenic hearing loss v2.237 MORC2 Eleanor Williams Tag for-review was removed from gene: MORC2.
Monogenic hearing loss v2.237 COG4 Eleanor Williams Tag for-review was removed from gene: COG4.
Monogenic hearing loss v2.237 SNAI2 Eleanor Williams Phenotypes for gene: SNAI2 were changed from Waardenburg syndrome, type 2D, 608890; Piebaldism, 172800 to Waardenburg syndrome, type 2D, OMIM:608890; Waardenburg syndrome type 2, MONDO_0019517
Monogenic hearing loss v2.236 SNAI2 Eleanor Williams Tag for-review was removed from gene: SNAI2.
Monogenic hearing loss v2.236 SLITRK6 Eleanor Williams Phenotypes for gene: SLITRK6 were changed from Deafness and myopia, 221200; high myopia-sensorineural deafness syndrome MONDO:0009082 to Deafness and myopia, OMIM:221200; high myopia-sensorineural deafness syndrome MONDO:0009082
Monogenic hearing loss v2.235 SLITRK6 Eleanor Williams Tag for-review was removed from gene: SLITRK6.
Monogenic hearing loss v2.235 SLC52A3 Eleanor Williams Phenotypes for gene: SLC52A3 were changed from Brown-Vialetto-Van Laere syndrome 1 #211530 to Brown-Vialetto-Van Laere syndrome 1, OMIM:211530
Mitochondrial disorder with complex I deficiency v1.15 NDUFC2 Sarah Leigh Tag for-review was removed from gene: NDUFC2.
Tag Q2_21_rating was removed from gene: NDUFC2.
Monogenic hearing loss v2.234 SLC52A3 Eleanor Williams Tag for-review was removed from gene: SLC52A3.
Monogenic hearing loss v2.234 SLC52A2 Eleanor Williams Phenotypes for gene: SLC52A2 were changed from Brown-Vialetto-Van Laere syndrome 2 #614707 to Brown-Vialetto-Van Laere syndrome 2, OMIM:614707
Monogenic hearing loss v2.233 SLC52A2 Eleanor Williams Tag for-review was removed from gene: SLC52A2.
Mitochondrial disorder with complex I deficiency v1.15 NDUFC2 Sarah Leigh commented on gene: NDUFC2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.233 SLC12A2 Eleanor Williams Tag for-review was removed from gene: SLC12A2.
Monogenic hearing loss v2.233 RIPOR2 Eleanor Williams Phenotypes for gene: RIPOR2 were changed from Hearing loss, non-syndromic, autosomal recessive (Diaz-Horta (2014) Proc Natl AcadSci USA 111,9864); Sensorineural hearing loss; OrphaNet: ORPHA90636; OMIM:616515 to ?Deafness, autosomal recessive 104 , OMIM:616515
Monogenic hearing loss v2.232 PLS1 Eleanor Williams Phenotypes for gene: PLS1 were changed from Deafness, autosomal dominant 76 OMIM:618787; deafness, autosomal dominant 76 MONDO:0032917 to Deafness, autosomal dominant 76, OMIM:618787; deafness, autosomal dominant 76, MONDO:0032917
Monogenic hearing loss v2.231 PLS1 Eleanor Williams Tag for-review was removed from gene: PLS1.
Monogenic hearing loss v2.231 MPZL2 Eleanor Williams Phenotypes for gene: MPZL2 were changed from Deafness, autosomal recessive 111 OMIM:618145; deafness, autosomal recessive 111 MONDO:0029142 to Deafness, autosomal recessive 111, OMIM:618145; deafness, autosomal recessive 111, MONDO:0029142
Monogenic hearing loss v2.230 MPZL2 Eleanor Williams Tag for-review was removed from gene: MPZL2.
Monogenic hearing loss v2.230 MN1 Eleanor Williams Tag for-review was removed from gene: MN1.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.16 GCM2 Ivone Leong Tag for-review was removed from gene: GCM2.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.16 GCM2 Ivone Leong commented on gene: GCM2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.15 GCM2 Ivone Leong Source Expert Review Green was added to GCM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.230 LMX1A Eleanor Williams commented on gene: LMX1A: The MOI of this gene should be reviewed at the next update to consider whether it should be set to Both mono and bi-allelic
Monogenic hearing loss v2.230 LMX1A Eleanor Williams Tag Q1_22_MOI tag was added to gene: LMX1A.
Monogenic hearing loss v2.230 LMX1A Eleanor Williams changed review comment from: Comment on mode of inheritance: Setting MOI to Monoallelic as only one case of biallelic reported to date, and patients with biallelic variants would still be picked up by the Genomics England pipeline.; to: Comment on mode of inheritance: Setting MOI to Monoallelic as only one case of biallelic reported to date
Mitochondrial disorder with complex I deficiency v1.15 NDUFC2 Sarah Leigh Source Expert Review Green was added to NDUFC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.230 LMX1A Eleanor Williams Tag watchlist was removed from gene: LMX1A.
Tag for-review was removed from gene: LMX1A.
Monogenic hearing loss v2.230 HARS2 Eleanor Williams Tag for-review was removed from gene: HARS2.
Monogenic hearing loss v2.230 FOXI1 Eleanor Williams Tag for-review was removed from gene: FOXI1.
Endocrine neoplasia v1.25 VHL Ivone Leong Tag for-review was removed from gene: VHL.
Endocrine neoplasia v1.25 TP53 Ivone Leong Tag for-review was removed from gene: TP53.
Endocrine neoplasia v1.25 TP53 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.
Endocrine neoplasia v1.25 PRKAR1A Ivone Leong Tag for-review was removed from gene: PRKAR1A.
Endocrine neoplasia v1.25 VHL Ivone Leong commented on gene: VHL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Endocrine neoplasia v1.25 TP53 Ivone Leong commented on gene: TP53: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Endocrine neoplasia v1.25 PRKAR1A Ivone Leong commented on gene: PRKAR1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Endocrine neoplasia v1.24 VHL Ivone Leong Source Expert Review Green was added to VHL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Endocrine neoplasia v1.24 PRKAR1A Ivone Leong Source Expert Review Green was added to PRKAR1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.230 FDXR Eleanor Williams Phenotypes for gene: FDXR were changed from Auditory neuropathy and optic atrophy, MIM# 617717 to Auditory neuropathy and optic atrophy, OMIM:617717
Monogenic hearing loss v2.229 FDXR Eleanor Williams Tag for-review was removed from gene: FDXR.
Differences in sex development v2.57 TSPYL1 Ivone Leong Tag for-review was removed from gene: TSPYL1.
Monogenic hearing loss v2.229 EPS8L2 Eleanor Williams Phenotypes for gene: EPS8L2 were changed from Deafness, autosomal recessive 106, MIM#617637 to Deafness, autosomal recessive 106, OMIM:617637
Differences in sex development v2.57 PPP1R12A Ivone Leong Tag for-review was removed from gene: PPP1R12A.
Differences in sex development v2.57 DHX37 Ivone Leong Tag for-review was removed from gene: DHX37.
Monogenic hearing loss v2.228 EPS8L2 Eleanor Williams Tag for-review was removed from gene: EPS8L2.
Monogenic hearing loss v2.228 DMXL2 Eleanor Williams Phenotypes for gene: DMXL2 were changed from ?Deafness, autosomal dominant 71, 617605; Epileptic encephalopathy, early infantile, 81, 618663 to ?Deafness, autosomal dominant 71, OMIM:617605
Differences in sex development v2.57 TSPYL1 Ivone Leong commented on gene: TSPYL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Differences in sex development v2.57 PPP1R12A Ivone Leong commented on gene: PPP1R12A
Differences in sex development v2.57 DHX37 Ivone Leong commented on gene: DHX37
Differences in sex development v2.56 TSPYL1 Ivone Leong Source Expert Review Green was added to TSPYL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Differences in sex development v2.56 PPP1R12A Ivone Leong Source Expert Review Green was added to PPP1R12A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Differences in sex development v2.56 DHX37 Ivone Leong Source Expert Review Green was added to DHX37.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital adrenal hypoplasia v2.9 POLE Ivone Leong Tag for-review was removed from gene: POLE.
Monogenic hearing loss v2.227 COL9A1 Eleanor Williams Tag for-review was removed from gene: COL9A1.
Congenital adrenal hypoplasia v2.9 POLE Ivone Leong commented on gene: POLE: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Congenital adrenal hypoplasia v2.8 POLE Ivone Leong Source Expert Review Green was added to POLE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.227 COL4A6 Eleanor Williams Tag for-review was removed from gene: COL4A6.
Monogenic hearing loss v2.227 COL4A6 Eleanor Williams Phenotypes for gene: COL4A6 were changed from #300914:?Deafness, X-linked 6; diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5; Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4) to Deafness, X-linked 6, OMIM:300914
Monogenic hearing loss v2.226 COL2A1 Eleanor Williams Phenotypes for gene: COL2A1 were changed from Stickler syndrome, type I, 108300 to Stickler syndrome, type I, OMIM:108300
Monogenic hearing loss v2.225 COL2A1 Eleanor Williams Tag for-review was removed from gene: COL2A1.
Monogenic hearing loss v2.225 COL11A1 Eleanor Williams Tag for-review was removed from gene: COL11A1.
Monogenic hearing loss v2.225 COCH Eleanor Williams Tag for-review was removed from gene: COCH.
Monogenic hearing loss v2.225 CISD2 Eleanor Williams Phenotypes for gene: CISD2 were changed from hearing loss; Wolfram syndrome 2 604928 to hearing loss; Wolfram syndrome 2, OMIM:604928
Hypertrophic cardiomyopathy v2.35 GYG1 Ivone Leong Tag Q4_21_expert_review was removed from gene: GYG1.
Tag Q4_21_NHS_review was removed from gene: GYG1.
Monogenic hearing loss v2.224 CISD2 Eleanor Williams Tag for-review was removed from gene: CISD2.
Hypertrophic cardiomyopathy v2.35 GYG1 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.
Hypertrophic cardiomyopathy v2.35 TRIM63 Ivone Leong Tag Q3_21_rating was removed from gene: TRIM63.
Tag Q3_21_NHS_review was removed from gene: TRIM63.
Hypertrophic cardiomyopathy v2.35 TRIM63 Ivone Leong commented on gene: TRIM63: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hypertrophic cardiomyopathy v2.35 GYG1 Ivone Leong commented on gene: GYG1: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Hypertrophic cardiomyopathy v2.34 TRIM63 Ivone Leong Source Expert Review Green was added to TRIM63.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.224 CEP250 Eleanor Williams Tag for-review was removed from gene: CEP250.
Monogenic hearing loss v2.224 CDC14A Eleanor Williams Phenotypes for gene: CDC14A were changed from Deafness, autosomal recessive 32, with or without immotile sperm, MIM#608653 to Deafness, autosomal recessive 32, with or without immotile sperm, OMIM:608653
Monogenic hearing loss v2.223 CDC14A Eleanor Williams Tag for-review was removed from gene: CDC14A.
Monogenic hearing loss v2.223 ATP6V1B2 Eleanor Williams Tag for-review was removed from gene: ATP6V1B2.
Monogenic hearing loss v2.223 ATP6V1B2 Eleanor Williams Phenotypes for gene: ATP6V1B2 were changed from Deafness, congenital, with onychodystrophy, autosomal dominant, 124480; Zimmermann-Laband syndrome 2, 616455 to Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480; Zimmermann-Laband syndrome 2, OMIM:616455
Monogenic hearing loss v2.222 AIFM1 Eleanor Williams Phenotypes for gene: AIFM1 were changed from Deafness, X-linked 5, MIM#300614 to Deafness, X-linked 5, OMIM:300614
Monogenic hearing loss v2.221 AIFM1 Eleanor Williams Tag for-review was removed from gene: AIFM1.
Monogenic hearing loss v2.221 SNAI2 Eleanor Williams commented on gene: SNAI2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.221 SLITRK6 Eleanor Williams commented on gene: SLITRK6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.221 SLC52A3 Eleanor Williams commented on gene: SLC52A3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.221 SLC52A2 Eleanor Williams commented on gene: SLC52A2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.221 SLC12A2 Eleanor Williams commented on gene: SLC12A2
Monogenic hearing loss v2.221 RIPOR2 Eleanor Williams commented on gene: RIPOR2
Monogenic hearing loss v2.221 PLS1 Eleanor Williams commented on gene: PLS1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.221 MPZL2 Eleanor Williams commented on gene: MPZL2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.221 MN1 Eleanor Williams commented on gene: MN1
Monogenic hearing loss v2.221 LMX1A Eleanor Williams commented on gene: LMX1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.221 HARS2 Eleanor Williams commented on gene: HARS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.221 FOXI1 Eleanor Williams commented on gene: FOXI1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.221 FDXR Eleanor Williams commented on gene: FDXR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.221 EPS8L2 Eleanor Williams commented on gene: EPS8L2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.221 DMXL2 Eleanor Williams commented on gene: DMXL2: The rating and mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.221 COL9A2 Eleanor Williams commented on gene: COL9A2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.221 COL9A1 Eleanor Williams commented on gene: COL9A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.221 COL4A6 Eleanor Williams commented on gene: COL4A6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.221 COL2A1 Eleanor Williams commented on gene: COL2A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.221 COL11A1 Eleanor Williams commented on gene: COL11A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.221 COCH Eleanor Williams commented on gene: COCH: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.221 CISD2 Eleanor Williams commented on gene: CISD2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.221 CEP250 Eleanor Williams commented on gene: CEP250
Monogenic hearing loss v2.221 CDC14A Eleanor Williams commented on gene: CDC14A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.221 ATP6V1B2 Eleanor Williams commented on gene: ATP6V1B2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.221 AIFM1 Eleanor Williams commented on gene: AIFM1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.221 NARS2 Eleanor Williams commented on gene: NARS2: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. The decision was too keep an Amber rating for now.
Monogenic hearing loss v2.221 MORC2 Eleanor Williams commented on gene: MORC2
Monogenic hearing loss v2.221 COG4 Eleanor Williams commented on gene: COG4
Paediatric or syndromic cardiomyopathy v1.65 SPEG Ivone Leong Tag Q2_21_rating was removed from gene: SPEG.
Paediatric or syndromic cardiomyopathy v1.65 RPL3L Ivone Leong Tag Q2_21_rating was removed from gene: RPL3L.
Paediatric or syndromic cardiomyopathy v1.65 RPL3L 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.
Paediatric or syndromic cardiomyopathy v1.65 RNF220 Ivone Leong Tag Q4_21_rating was removed from gene: RNF220.
Monogenic hearing loss v2.220 SNAI2 Eleanor Williams Source Expert Review Amber was added to SNAI2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Monogenic hearing loss v2.220 SLITRK6 Eleanor Williams Source Expert Review Green was added to SLITRK6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.220 SLC52A3 Eleanor Williams Source Expert Review Green was added to SLC52A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.220 SLC52A2 Eleanor Williams Source Expert Review Green was added to SLC52A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.220 SLC12A2 Eleanor Williams Source Expert Review Green was added to SLC12A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.220 RIPOR2 Eleanor Williams Source Expert list was added to RIPOR2.
Monogenic hearing loss v2.220 PLS1 Eleanor Williams Source Expert Review Green was added to PLS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.220 MPZL2 Eleanor Williams Source Expert Review Green was added to MPZL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.220 MN1 Eleanor Williams Source Expert Review Green was added to MN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.220 LMX1A Eleanor Williams Source Expert Review Green was added to LMX1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.220 HARS2 Eleanor Williams Source Expert Review Green was added to HARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.220 FOXI1 Eleanor Williams Source Expert Review Green was added to FOXI1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.220 FDXR Eleanor Williams Source Expert Review Green was added to FDXR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.220 EPS8L2 Eleanor Williams Source Expert Review Green was added to EPS8L2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.220 DMXL2 Eleanor Williams Source Expert Review Green was added to DMXL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.220 COL9A2 Eleanor Williams Source Expert Review Green was added to COL9A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.220 COL9A1 Eleanor Williams Source Expert Review Green was added to COL9A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.220 COL4A6 Eleanor Williams Source Expert Review Amber was added to COL4A6.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Monogenic hearing loss v2.220 COL2A1 Eleanor Williams Source Expert Review Green was added to COL2A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.220 COL11A1 Eleanor Williams Source Expert Review Green was added to COL11A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.220 COCH Eleanor Williams Source Expert list was added to COCH.
Mode of inheritance for gene COCH was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic hearing loss v2.220 CISD2 Eleanor Williams Source Expert Review Green was added to CISD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.220 CEP250 Eleanor Williams Source Expert Review Green was added to CEP250.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.220 CDC14A Eleanor Williams Source Expert Review Green was added to CDC14A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.220 ATP6V1B2 Eleanor Williams Source Expert Review Green was added to ATP6V1B2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.220 AIFM1 Eleanor Williams Source Expert Review Green was added to AIFM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v1.65 RNF220 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.
Paediatric or syndromic cardiomyopathy v1.65 PLD1 Ivone Leong Tag Q2_21_rating was removed from gene: PLD1.
Glycogen storage disease v1.7 PYGM Sarah Leigh Tag for-review was removed from gene: PYGM.
Paediatric or syndromic cardiomyopathy v1.65 PDLIM3 Ivone Leong Tag Q2_21_rating was removed from gene: PDLIM3.
Glycogen storage disease v1.7 PYGM Sarah Leigh edited their review of gene: PYGM: Added comment: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v1.65 NRAP Ivone Leong Tag Q2_21_rating was removed from gene: NRAP.
Paediatric or syndromic cardiomyopathy v1.65 MYLK3 Ivone Leong Tag Q2_21_rating was removed from gene: MYLK3.
Paediatric or syndromic cardiomyopathy v1.65 MIB1 Ivone Leong Tag Q2_21_rating was removed from gene: MIB1.
Paediatric or syndromic cardiomyopathy v1.65 FLII Ivone Leong Tag Q2_21_rating was removed from gene: FLII.
Paediatric or syndromic cardiomyopathy v1.65 COX6B1 Ivone Leong Tag Q2_21_rating was removed from gene: COX6B1.
Paediatric or syndromic cardiomyopathy v1.65 COX14 Ivone Leong Tag Q2_21_rating was removed from gene: COX14.
Paediatric or syndromic cardiomyopathy v1.65 SPEG Ivone Leong commented on gene: SPEG: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.65 RPL3L Ivone Leong commented on gene: RPL3L: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Paediatric or syndromic cardiomyopathy v1.65 RNF220 Ivone Leong commented on gene: RNF220: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Paediatric or syndromic cardiomyopathy v1.65 PLD1 Ivone Leong commented on gene: PLD1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.65 PDLIM3 Ivone Leong commented on gene: PDLIM3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.65 NRAP Ivone Leong commented on gene: NRAP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.65 MYLK3 Ivone Leong commented on gene: MYLK3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.65 MIB1 Ivone Leong commented on gene: MIB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.65 FLII Ivone Leong commented on gene: FLII: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Paediatric or syndromic cardiomyopathy v1.65 COX6B1 Ivone Leong commented on gene: COX6B1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.65 COX14 Ivone Leong commented on gene: COX14: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.64 SPEG Ivone Leong Source Expert Review Green was added to SPEG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v1.64 PLD1 Ivone Leong Source Expert Review Green was added to PLD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v1.64 PDLIM3 Ivone Leong Source Expert Review Amber was added to PDLIM3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.64 NRAP Ivone Leong Source Expert Review Green was added to NRAP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v1.64 MYLK3 Ivone Leong Source Expert Review Green was added to MYLK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v1.64 MIB1 Ivone Leong Source Expert Review Amber was added to MIB1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.64 COX6B1 Ivone Leong Source Expert Review Amber was added to COX6B1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.64 COX14 Ivone Leong Source Expert Review Amber was added to COX14.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Thoracic aortic aneurysm or dissection (GMS) v1.23 FOXE3 Ivone Leong Tag for-review was removed from gene: FOXE3.
Thoracic aortic aneurysm or dissection (GMS) v1.23 FOXE3 Ivone Leong commented on gene: FOXE3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Thoracic aortic aneurysm or dissection (GMS) v1.22 FOXE3 Ivone Leong Source Expert Review Amber was added to FOXE3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Likely inborn error of metabolism v2.223 AHCY Sarah Leigh Tag for-review was removed from gene: AHCY.
Likely inborn error of metabolism v2.223 ALG14 Sarah Leigh Tag for-review was removed from gene: ALG14.
Likely inborn error of metabolism v2.223 SLC5A6 Sarah Leigh Tag for-review was removed from gene: SLC5A6.
Likely inborn error of metabolism v2.223 GALM Sarah Leigh Tag for-review was removed from gene: GALM.
Short QT syndrome v2.12 CACNA1C Ivone Leong Tag for-review was removed from gene: CACNA1C.
Likely inborn error of metabolism v2.223 HS2ST1 Sarah Leigh Tag for-review was removed from gene: HS2ST1.
Short QT syndrome v2.12 CACNA1C 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.
Short QT syndrome v2.12 CACNA1C Ivone Leong commented on gene: CACNA1C: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Likely inborn error of metabolism v2.223 SHMT2 Sarah Leigh Tag for-review was removed from gene: SHMT2.
Likely inborn error of metabolism v2.223 GLS Sarah Leigh Tag for-review was removed from gene: GLS.
Likely inborn error of metabolism v2.223 GMPPA Sarah Leigh Tag for-review was removed from gene: GMPPA.
Likely inborn error of metabolism v2.223 PIGS Sarah Leigh Tag for-review was removed from gene: PIGS.
Likely inborn error of metabolism v2.223 PIGS Sarah Leigh commented on gene: PIGS: The rating of this gene has been updated following NHS Genomic Medicine Service approval
Likely inborn error of metabolism v2.223 GMPPA Sarah Leigh commented on gene: GMPPA: The rating of this gene has been updated following NHS Genomic Medicine Service approval
Likely inborn error of metabolism v2.223 GLS Sarah Leigh commented on gene: GLS
Likely inborn error of metabolism v2.223 SHMT2 Sarah Leigh commented on gene: SHMT2
Likely inborn error of metabolism v2.223 HS2ST1 Sarah Leigh commented on gene: HS2ST1
Likely inborn error of metabolism v2.223 GALM Sarah Leigh commented on gene: GALM
Likely inborn error of metabolism v2.223 SLC5A6 Sarah Leigh commented on gene: SLC5A6: The rating of this gene has been updated following NHS Genomic Medicine Service approval
Likely inborn error of metabolism v2.223 ALG14 Sarah Leigh commented on gene: ALG14: The rating of this gene has been updated following NHS Genomic Medicine Service approval
Likely inborn error of metabolism v2.223 AHCY Sarah Leigh commented on gene: AHCY: The rating of this gene has been updated following NHS Genomic Medicine Service approval
Likely inborn error of metabolism v2.222 PIGS Sarah Leigh Source Expert Review Green was added to PIGS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v2.222 GMPPA Sarah Leigh Source Expert Review Green was added to GMPPA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v2.222 SHMT2 Sarah Leigh Source Expert Review Green was added to SHMT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v2.222 HS2ST1 Sarah Leigh Source Expert Review Green was added to HS2ST1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v2.222 GALM Sarah Leigh Source Expert Review Green was added to GALM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v2.222 SLC5A6 Sarah Leigh Source Expert Review Green was added to SLC5A6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v2.222 ALG14 Sarah Leigh Source Expert Review Green was added to ALG14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v2.222 AHCY Sarah Leigh Source Expert Review Green was added to AHCY.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.836 KNL1 Arina Puzriakova Tag for-review was removed from gene: KNL1.
Fetal anomalies v1.836 KLHL7 Arina Puzriakova Tag for-review was removed from gene: KLHL7.
Fetal anomalies v1.836 KIF5C Arina Puzriakova Tag for-review was removed from gene: KIF5C.
Fetal anomalies v1.836 KIF2A Arina Puzriakova Tag for-review was removed from gene: KIF2A.
Fetal anomalies v1.836 KIF14 Arina Puzriakova Tag for-review was removed from gene: KIF14.
Fetal anomalies v1.836 KIAA0753 Arina Puzriakova Tag for-review was removed from gene: KIAA0753.
Fetal anomalies v1.836 KATNB1 Arina Puzriakova Tag for-review was removed from gene: KATNB1.
Fetal anomalies v1.836 ITGA8 Arina Puzriakova Tag for-review was removed from gene: ITGA8.
Fetal anomalies v1.836 IFT81 Arina Puzriakova Tag for-review was removed from gene: IFT81.
Fetal anomalies v1.836 IFT52 Arina Puzriakova Tag for-review was removed from gene: IFT52.
Fetal anomalies v1.836 IDH1 Arina Puzriakova Tag for-review was removed from gene: IDH1.
Fetal anomalies v1.836 ICK Arina Puzriakova Tag for-review was removed from gene: ICK.
Fetal anomalies v1.836 HMGA2 Arina Puzriakova Tag for-review was removed from gene: HMGA2.
Fetal anomalies v1.836 HIST1H1E Arina Puzriakova Tag for-review was removed from gene: HIST1H1E.
Fetal anomalies v1.836 HESX1 Arina Puzriakova Tag for-review was removed from gene: HESX1.
Fetal anomalies v1.836 HADHB Arina Puzriakova Tag for-review was removed from gene: HADHB.
Fetal anomalies v1.836 GZF1 Arina Puzriakova Tag for-review was removed from gene: GZF1.
Fetal anomalies v1.836 GSC Arina Puzriakova Tag for-review was removed from gene: GSC.
Fetal anomalies v1.836 GREB1L Arina Puzriakova Tag for-review was removed from gene: GREB1L.
Fetal anomalies v1.836 GPC6 Arina Puzriakova Tag for-review was removed from gene: GPC6.
Fetal anomalies v1.836 GMNN Arina Puzriakova Tag for-review was removed from gene: GMNN.
Fetal anomalies v1.836 GLI1 Arina Puzriakova Tag for-review was removed from gene: GLI1.
Fetal anomalies v1.836 GFPT1 Arina Puzriakova Tag for-review was removed from gene: GFPT1.
Fetal anomalies v1.836 GATA3 Arina Puzriakova Tag for-review was removed from gene: GATA3.
Fetal anomalies v1.836 GANAB Arina Puzriakova Tag for-review was removed from gene: GANAB.
Fetal anomalies v1.836 GALNT2 Arina Puzriakova Tag for-review was removed from gene: GALNT2.
Fetal anomalies v1.836 FZD2 Arina Puzriakova Tag for-review was removed from gene: FZD2.
Fetal anomalies v1.836 FUT8 Arina Puzriakova Tag for-review was removed from gene: FUT8.
Fetal anomalies v1.836 FLNC Arina Puzriakova Tag Q4_21_rating was removed from gene: FLNC.
Fetal anomalies v1.836 FKBP10 Arina Puzriakova Tag for-review was removed from gene: FKBP10.
Fetal anomalies v1.836 FIG4 Arina Puzriakova Tag for-review was removed from gene: FIG4.
Fetal anomalies v1.836 FANCL Arina Puzriakova Tag for-review was removed from gene: FANCL.
Fetal anomalies v1.836 FAM46A Arina Puzriakova Tag for-review was removed from gene: FAM46A.
Fetal anomalies v1.836 EXTL3 Arina Puzriakova Tag Q4_21_rating was removed from gene: EXTL3.
Fetal anomalies v1.836 EXOC3L2 Arina Puzriakova Tag for-review was removed from gene: EXOC3L2.
Fetal anomalies v1.836 ENPP1 Arina Puzriakova Tag Q4_21_rating was removed from gene: ENPP1.
Fetal anomalies v1.836 EMX2 Arina Puzriakova Tag for-review was removed from gene: EMX2.
Fetal anomalies v1.836 EML1 Arina Puzriakova Tag for-review was removed from gene: EML1.
Fetal anomalies v1.836 EIF5A Arina Puzriakova Tag Q4_21_rating was removed from gene: EIF5A.
Fetal anomalies v1.836 EIF2S3 Arina Puzriakova Tag for-review was removed from gene: EIF2S3.
Fetal anomalies v1.836 EED Arina Puzriakova Tag for-review was removed from gene: EED.
Fetal anomalies v1.836 DZIP1L Arina Puzriakova Tag for-review was removed from gene: DZIP1L.
Fetal anomalies v1.836 DYNC2LI1 Arina Puzriakova Tag for-review was removed from gene: DYNC2LI1.
Fetal anomalies v1.836 DPM3 Arina Puzriakova Tag for-review was removed from gene: DPM3.
Fetal anomalies v1.836 DPM2 Arina Puzriakova Tag for-review was removed from gene: DPM2.
Fetal anomalies v1.836 DONSON Arina Puzriakova Tag for-review was removed from gene: DONSON.
Fetal anomalies v1.836 DNM2 Arina Puzriakova Tag for-review was removed from gene: DNM2.
Fetal anomalies v1.836 DNM1L Arina Puzriakova Tag for-review was removed from gene: DNM1L.
Fetal anomalies v1.836 DNAL1 Arina Puzriakova Tag for-review was removed from gene: DNAL1.
Fetal anomalies v1.836 DNAJB11 Arina Puzriakova Tag for-review was removed from gene: DNAJB11.
Fetal anomalies v1.836 DNAAF5 Arina Puzriakova Tag for-review was removed from gene: DNAAF5.
Primary lymphoedema v2.25 CHD7 Ivone Leong Tag for-review was removed from gene: CHD7.
Primary lymphoedema v2.25 CHD7 Ivone Leong Classified gene: CHD7 as Red List (low evidence)
Primary lymphoedema v2.25 CHD7 Ivone Leong Gene: chd7 has been classified as Red List (Low Evidence).
Primary lymphoedema v2.24 ANGPT2 Ivone Leong Tag for-review was removed from gene: ANGPT2.
Primary lymphoedema v2.24 CHD7 Ivone Leong commented on gene: CHD7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary lymphoedema v2.24 ANGPT2 Ivone Leong commented on gene: ANGPT2: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Long QT syndrome v2.31 KCNE1 Ivone Leong Tag for-review was removed from gene: KCNE1.
Long QT syndrome v2.31 TRDN Ivone Leong Tag for-review was removed from gene: TRDN.
Long QT syndrome v2.31 KCNE2 Ivone Leong Tag for-review was removed from gene: KCNE2.
Long QT syndrome v2.31 KCNE2 Ivone Leong commented on gene: KCNE2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Long QT syndrome v2.31 KCNE1 Ivone Leong commented on gene: KCNE1: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Long QT syndrome v2.31 TRDN Ivone Leong commented on gene: TRDN: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Long QT syndrome v2.30 KCNE2 Ivone Leong Source Expert Review Amber was added to KCNE2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hypertrophic cardiomyopathy v2.33 ALPK3 Ivone Leong Tag Q3_21_MOI was removed from gene: ALPK3.
Hypertrophic cardiomyopathy v2.33 ALPK3 Ivone Leong Tag Q3_21_NHS_review was removed from gene: ALPK3.
Tag Q3_21_expert_review was removed from gene: ALPK3.
Hypertrophic cardiomyopathy v2.33 ALPK3 Ivone Leong Tag for-review was removed from gene: ALPK3.
Hypertrophic cardiomyopathy v2.33 ALPK3 Ivone Leong commented on gene: ALPK3: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Fetal anomalies v1.836 DNAI2 Arina Puzriakova Tag for-review was removed from gene: DNAI2.
Fetal anomalies v1.836 DNAAF2 Arina Puzriakova Tag for-review was removed from gene: DNAAF2.
Fetal anomalies v1.836 DLX5 Arina Puzriakova Tag for-review was removed from gene: DLX5.
Fetal anomalies v1.836 DISP1 Arina Puzriakova Tag for-review was removed from gene: DISP1.
Fetal anomalies v1.836 DIAPH1 Arina Puzriakova Tag for-review was removed from gene: DIAPH1.
Fetal anomalies v1.836 DENND5A Arina Puzriakova Tag for-review was removed from gene: DENND5A.
Fetal anomalies v1.836 DDX59 Arina Puzriakova Tag for-review was removed from gene: DDX59.
Fetal anomalies v1.836 CYP4F22 Arina Puzriakova Tag for-review was removed from gene: CYP4F22.
Fetal anomalies v1.836 CYP26B1 Arina Puzriakova Tag for-review was removed from gene: CYP26B1.
Fetal anomalies v1.836 CTU2 Arina Puzriakova Tag for-review was removed from gene: CTU2.
Fetal anomalies v1.836 CTNND1 Arina Puzriakova Tag for-review was removed from gene: CTNND1.
Fetal anomalies v1.836 CSF1R Arina Puzriakova Tag Q4_21_rating was removed from gene: CSF1R.
Fetal anomalies v1.836 CRIPT Arina Puzriakova Tag for-review was removed from gene: CRIPT.
Fetal anomalies v1.836 CREB3L1 Arina Puzriakova Tag for-review was removed from gene: CREB3L1.
Fetal anomalies v1.836 CRADD Arina Puzriakova Tag Q4_21_rating was removed from gene: CRADD.
Fetal anomalies v1.836 COLQ Arina Puzriakova Tag for-review was removed from gene: COLQ.
Fetal anomalies v1.836 COLEC10 Arina Puzriakova Tag for-review was removed from gene: COLEC10.
Fetal anomalies v1.836 COL13A1 Arina Puzriakova Tag for-review was removed from gene: COL13A1.
Fetal anomalies v1.836 COL12A1 Arina Puzriakova Tag for-review was removed from gene: COL12A1.
Fetal anomalies v1.836 COG6 Arina Puzriakova Tag for-review was removed from gene: COG6.
Fetal anomalies v1.836 COG5 Arina Puzriakova Tag for-review was removed from gene: COG5.
Fetal anomalies v1.836 CLP1 Arina Puzriakova Tag for-review was removed from gene: CLP1.
Fetal anomalies v1.836 CIT Arina Puzriakova Tag for-review was removed from gene: CIT.
Fetal anomalies v1.836 CHRNE Arina Puzriakova Tag for-review was removed from gene: CHRNE.
Fetal anomalies v1.836 CHRNB1 Arina Puzriakova Tag for-review was removed from gene: CHRNB1.
Fetal anomalies v1.836 CHRNA3 Arina Puzriakova Tag for-review was removed from gene: CHRNA3.
Fetal anomalies v1.836 CHMP1A Arina Puzriakova Tag for-review was removed from gene: CHMP1A.
Fetal anomalies v1.836 CFL2 Arina Puzriakova Tag for-review was removed from gene: CFL2.
Fetal anomalies v1.836 CERS3 Arina Puzriakova Tag for-review was removed from gene: CERS3.
Fetal anomalies v1.836 CEP63 Arina Puzriakova Tag for-review was removed from gene: CEP63.
Fetal anomalies v1.836 CEP55 Arina Puzriakova Tag for-review was removed from gene: CEP55.
Fetal anomalies v1.836 CEP135 Arina Puzriakova Tag for-review was removed from gene: CEP135.
Fetal anomalies v1.836 CENPF Arina Puzriakova Tag for-review was removed from gene: CENPF.
Fetal anomalies v1.836 CELSR1 Arina Puzriakova Tag for-review was removed from gene: CELSR1.
Fetal anomalies v1.836 CDK8 Arina Puzriakova Tag Q4_21_rating was removed from gene: CDK8.
Fetal anomalies v1.836 CDK5RAP2 Arina Puzriakova Tag for-review was removed from gene: CDK5RAP2.
Fetal anomalies v1.836 CCDC88C Arina Puzriakova Tag for-review was removed from gene: CCDC88C.
Fetal anomalies v1.836 CCDC8 Arina Puzriakova Tag for-review was removed from gene: CCDC8.
Fetal anomalies v1.836 CCDC151 Arina Puzriakova Tag for-review was removed from gene: CCDC151.
Fetal anomalies v1.836 CASR Arina Puzriakova Tag for-review was removed from gene: CASR.
Fetal anomalies v1.836 CANT1 Arina Puzriakova Tag for-review was removed from gene: CANT1.
Fetal anomalies v1.836 CACNA1G Arina Puzriakova Tag for-review was removed from gene: CACNA1G.
Fetal anomalies v1.836 C2CD3 Arina Puzriakova Tag for-review was removed from gene: C2CD3.
Fetal anomalies v1.836 C21orf59 Arina Puzriakova Tag for-review was removed from gene: C21orf59.
Fetal anomalies v1.836 BNC2 Arina Puzriakova Tag for-review was removed from gene: BNC2.
Fetal anomalies v1.836 B9D2 Arina Puzriakova Tag for-review was removed from gene: B9D2.
Fetal anomalies v1.836 B4GAT1 Arina Puzriakova Tag for-review was removed from gene: B4GAT1.
Fetal anomalies v1.836 B3GALNT2 Arina Puzriakova Tag for-review was removed from gene: B3GALNT2.
Fetal anomalies v1.836 ATR Arina Puzriakova Tag for-review was removed from gene: ATR.
Fetal anomalies v1.836 ATP1A2 Arina Puzriakova Tag for-review was removed from gene: ATP1A2.
Fetal anomalies v1.836 ARHGAP29 Arina Puzriakova Tag for-review was removed from gene: ARHGAP29.
Fetal anomalies v1.836 ARFGEF2 Arina Puzriakova Tag for-review was removed from gene: ARFGEF2.
Fetal anomalies v1.836 ANTXR2 Arina Puzriakova Tag for-review was removed from gene: ANTXR2.
Fetal anomalies v1.836 ANKS6 Arina Puzriakova Tag for-review was removed from gene: ANKS6.
Fetal anomalies v1.836 AMMECR1 Arina Puzriakova Tag for-review was removed from gene: AMMECR1.
Fetal anomalies v1.836 AMACR Arina Puzriakova Tag for-review was removed from gene: AMACR.
Fetal anomalies v1.836 ALOXE3 Arina Puzriakova Tag for-review was removed from gene: ALOXE3.
Fetal anomalies v1.836 ALOX12B Arina Puzriakova Tag for-review was removed from gene: ALOX12B.
Fetal anomalies v1.836 ALG9 Arina Puzriakova Tag for-review was removed from gene: ALG9.
Fetal anomalies v1.836 ALG2 Arina Puzriakova Tag for-review was removed from gene: ALG2.
Fetal anomalies v1.836 AKT2 Arina Puzriakova Tag for-review was removed from gene: AKT2.
Fetal anomalies v1.836 AHCY Arina Puzriakova Tag for-review was removed from gene: AHCY.
Fetal anomalies v1.836 ADAMTS3 Arina Puzriakova Tag for-review was removed from gene: ADAMTS3.
Fetal anomalies v1.836 ABL1 Arina Puzriakova Tag for-review was removed from gene: ABL1.
Congenital disorders of glycosylation v2.80 GALNT2 Sarah Leigh Tag for-review was removed from gene: GALNT2.
Congenital disorders of glycosylation v2.80 GALNT2 Sarah Leigh changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ZSWIM6 Arina Puzriakova commented on gene: ZSWIM6
Fetal anomalies v1.836 ZMYND10 Arina Puzriakova commented on gene: ZMYND10
Fetal anomalies v1.836 XYLT2 Arina Puzriakova commented on gene: XYLT2
Fetal anomalies v1.836 WDR81 Arina Puzriakova commented on gene: WDR81: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 WDR73 Arina Puzriakova commented on gene: WDR73
Fetal anomalies v1.836 VRK1 Arina Puzriakova commented on gene: VRK1
Fetal anomalies v1.836 VEGFC Arina Puzriakova commented on gene: VEGFC
Fetal anomalies v1.836 VAMP1 Arina Puzriakova commented on gene: VAMP1
Fetal anomalies v1.836 USP9X Arina Puzriakova commented on gene: USP9X
Fetal anomalies v1.836 USP18 Arina Puzriakova commented on gene: USP18: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 UBE2T Arina Puzriakova commented on gene: UBE2T
Fetal anomalies v1.836 TXNDC15 Arina Puzriakova commented on gene: TXNDC15
Fetal anomalies v1.836 TUBGCP4 Arina Puzriakova commented on gene: TUBGCP4
Fetal anomalies v1.836 TUBG1 Arina Puzriakova commented on gene: TUBG1
Fetal anomalies v1.836 TUBB3 Arina Puzriakova commented on gene: TUBB3
Fetal anomalies v1.836 TSFM Arina Puzriakova commented on gene: TSFM
Fetal anomalies v1.836 TSEN34 Arina Puzriakova commented on gene: TSEN34
Fetal anomalies v1.836 TSEN2 Arina Puzriakova commented on gene: TSEN2
Fetal anomalies v1.836 TRMT10A Arina Puzriakova commented on gene: TRMT10A
Fetal anomalies v1.836 TRAPPC12 Arina Puzriakova commented on gene: TRAPPC12: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TRAP1 Arina Puzriakova commented on gene: TRAP1
Fetal anomalies v1.836 TRAIP Arina Puzriakova commented on gene: TRAIP
Fetal anomalies v1.836 TRAF3IP1 Arina Puzriakova commented on gene: TRAF3IP1
Fetal anomalies v1.836 TOR1A Arina Puzriakova commented on gene: TOR1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TOE1 Arina Puzriakova commented on gene: TOE1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TNNT3 Arina Puzriakova commented on gene: TNNT3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TMX2 Arina Puzriakova commented on gene: TMX2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TMEM98 Arina Puzriakova commented on gene: TMEM98: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TMEM38B Arina Puzriakova commented on gene: TMEM38B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TMEM216 Arina Puzriakova commented on gene: TMEM216: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TMEM107 Arina Puzriakova commented on gene: TMEM107: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TENM3 Arina Puzriakova commented on gene: TENM3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TELO2 Arina Puzriakova commented on gene: TELO2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TCTEX1D2 Arina Puzriakova commented on gene: TCTEX1D2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TBC1D32 Arina Puzriakova commented on gene: TBC1D32: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SULT2B1 Arina Puzriakova commented on gene: SULT2B1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SUFU Arina Puzriakova commented on gene: SUFU: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 STRADA Arina Puzriakova commented on gene: STRADA: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 STIL Arina Puzriakova commented on gene: STIL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 STAC3 Arina Puzriakova commented on gene: STAC3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ST14 Arina Puzriakova commented on gene: ST14: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SPECC1L Arina Puzriakova commented on gene: SPECC1L: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SPARC Arina Puzriakova commented on gene: SPARC: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SP7 Arina Puzriakova commented on gene: SP7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SOX6 Arina Puzriakova commented on gene: SOX6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SOX18 Arina Puzriakova commented on gene: SOX18: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SNX10 Arina Puzriakova commented on gene: SNX10: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SMS Arina Puzriakova commented on gene: SMS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SMPD4 Arina Puzriakova commented on gene: SMPD4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SMG9 Arina Puzriakova commented on gene: SMG9
Fetal anomalies v1.836 SMARCE1 Arina Puzriakova commented on gene: SMARCE1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SMARCC1 Arina Puzriakova commented on gene: SMARCC1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SLC6A9 Arina Puzriakova commented on gene: SLC6A9: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SLC5A7 Arina Puzriakova commented on gene: SLC5A7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SLC29A3 Arina Puzriakova commented on gene: SLC29A3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SLC25A19 Arina Puzriakova commented on gene: SLC25A19: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SLC18A3 Arina Puzriakova commented on gene: SLC18A3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SIX6 Arina Puzriakova commented on gene: SIX6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SHANK3 Arina Puzriakova commented on gene: SHANK3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SGCG Arina Puzriakova commented on gene: SGCG: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SERPINH1 Arina Puzriakova commented on gene: SERPINH1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SERPINF1 Arina Puzriakova commented on gene: SERPINF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SEC24D Arina Puzriakova commented on gene: SEC24D
Fetal anomalies v1.836 SDR9C7 Arina Puzriakova commented on gene: SDR9C7
Fetal anomalies v1.836 SCN1A Arina Puzriakova commented on gene: SCN1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SCLT1 Arina Puzriakova commented on gene: SCLT1
Fetal anomalies v1.836 RSPH9 Arina Puzriakova commented on gene: RSPH9
Fetal anomalies v1.836 RSPH4A Arina Puzriakova commented on gene: RSPH4A
Fetal anomalies v1.836 RRAS2 Arina Puzriakova commented on gene: RRAS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 RPS7 Arina Puzriakova commented on gene: RPS7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 RPS24 Arina Puzriakova commented on gene: RPS24: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 RPL35A Arina Puzriakova commented on gene: RPL35A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 RPL10 Arina Puzriakova commented on gene: RPL10: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ROBO3 Arina Puzriakova commented on gene: ROBO3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 RFT1 Arina Puzriakova commented on gene: RFT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 RBM10 Arina Puzriakova commented on gene: RBM10: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 RBBP8 Arina Puzriakova commented on gene: RBBP8: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 RAB33B Arina Puzriakova commented on gene: RAB33B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PYGM Arina Puzriakova commented on gene: PYGM: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PTPN14 Arina Puzriakova commented on gene: PTPN14: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PSAT1 Arina Puzriakova commented on gene: PSAT1
Fetal anomalies v1.836 PRUNE1 Arina Puzriakova commented on gene: PRUNE1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PRKAG2 Arina Puzriakova commented on gene: PRKAG2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PRIM1 Arina Puzriakova commented on gene: PRIM1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 POP1 Arina Puzriakova commented on gene: POP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 POLR1B Arina Puzriakova commented on gene: POLR1B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 POLR1A Arina Puzriakova commented on gene: POLR1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 POLG2 Arina Puzriakova commented on gene: POLG2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 POLE Arina Puzriakova commented on gene: POLE
Fetal anomalies v1.836 PNPLA1 Arina Puzriakova commented on gene: PNPLA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PLG Arina Puzriakova commented on gene: PLG: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PLAG1 Arina Puzriakova commented on gene: PLAG1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PITX1 Arina Puzriakova commented on gene: PITX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PIK3C2A Arina Puzriakova commented on gene: PIK3C2A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PIH1D3 Arina Puzriakova commented on gene: PIH1D3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PIGN Arina Puzriakova commented on gene: PIGN: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PIBF1 Arina Puzriakova commented on gene: PIBF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PGM3 Arina Puzriakova commented on gene: PGM3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PFKM Arina Puzriakova commented on gene: PFKM: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PBX1 Arina Puzriakova commented on gene: PBX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PAX7 Arina Puzriakova commented on gene: PAX7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 P4HB Arina Puzriakova commented on gene: P4HB: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 OSGEP Arina Puzriakova commented on gene: OSGEP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 NXN Arina Puzriakova commented on gene: NXN: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 NIPAL4 Arina Puzriakova commented on gene: NIPAL4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 NEK8 Arina Puzriakova commented on gene: NEK8: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 NEDD4L Arina Puzriakova commented on gene: NEDD4L: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 NECTIN1 Arina Puzriakova commented on gene: NECTIN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 NADSYN1 Arina Puzriakova commented on gene: NADSYN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MYPN Arina Puzriakova commented on gene: MYPN: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MYOCD Arina Puzriakova commented on gene: MYOCD: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MYO9A Arina Puzriakova commented on gene: MYO9A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MYO18B Arina Puzriakova commented on gene: MYO18B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MYMK Arina Puzriakova commented on gene: MYMK: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MYL1 Arina Puzriakova commented on gene: MYL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MYH7 Arina Puzriakova commented on gene: MYH7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MYH2 Arina Puzriakova commented on gene: MYH2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MSTO1 Arina Puzriakova commented on gene: MSTO1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MSMO1 Arina Puzriakova commented on gene: MSMO1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MRAS Arina Puzriakova commented on gene: MRAS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MOGS Arina Puzriakova commented on gene: MOGS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MN1 Arina Puzriakova commented on gene: MN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MESD Arina Puzriakova commented on gene: MESD: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MEOX1 Arina Puzriakova commented on gene: MEOX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MEIS2 Arina Puzriakova commented on gene: MEIS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MAP3K7 Arina Puzriakova commented on gene: MAP3K7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MAP3K20 Arina Puzriakova commented on gene: MAP3K20: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MACF1 Arina Puzriakova commented on gene: MACF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 LRRC56 Arina Puzriakova commented on gene: LRRC56: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 LONP1 Arina Puzriakova commented on gene: LONP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 LMNB2 Arina Puzriakova commented on gene: LMNB2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 LMNB1 Arina Puzriakova commented on gene: LMNB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 LAMB1 Arina Puzriakova commented on gene: LAMB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 KNL1 Arina Puzriakova commented on gene: KNL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 KLHL7 Arina Puzriakova commented on gene: KLHL7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 KIF5C Arina Puzriakova commented on gene: KIF5C: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 KIF2A Arina Puzriakova commented on gene: KIF2A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 KIF14 Arina Puzriakova commented on gene: KIF14: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 KIAA0753 Arina Puzriakova commented on gene: KIAA0753: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 KATNB1 Arina Puzriakova commented on gene: KATNB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ITGA8 Arina Puzriakova commented on gene: ITGA8: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 IFT81 Arina Puzriakova commented on gene: IFT81: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 IFT52 Arina Puzriakova commented on gene: IFT52: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 IDH1 Arina Puzriakova commented on gene: IDH1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ICK Arina Puzriakova commented on gene: ICK: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 HMGA2 Arina Puzriakova commented on gene: HMGA2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 HIST1H1E Arina Puzriakova commented on gene: HIST1H1E: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 HESX1 Arina Puzriakova commented on gene: HESX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 HADHB Arina Puzriakova commented on gene: HADHB: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 GZF1 Arina Puzriakova commented on gene: GZF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 GSC Arina Puzriakova commented on gene: GSC: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 GREB1L Arina Puzriakova commented on gene: GREB1L
Fetal anomalies v1.836 GPC6 Arina Puzriakova commented on gene: GPC6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 GMNN Arina Puzriakova commented on gene: GMNN: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 GLI1 Arina Puzriakova commented on gene: GLI1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 GFPT1 Arina Puzriakova commented on gene: GFPT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 GATA3 Arina Puzriakova commented on gene: GATA3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 GANAB Arina Puzriakova commented on gene: GANAB: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 GALNT2 Arina Puzriakova commented on gene: GALNT2
Fetal anomalies v1.836 FZD2 Arina Puzriakova commented on gene: FZD2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 FUT8 Arina Puzriakova commented on gene: FUT8: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 FLNC Arina Puzriakova commented on gene: FLNC: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 FKBP10 Arina Puzriakova commented on gene: FKBP10: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 FIG4 Arina Puzriakova commented on gene: FIG4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 FANCL Arina Puzriakova commented on gene: FANCL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 FAM46A Arina Puzriakova commented on gene: FAM46A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 EXTL3 Arina Puzriakova commented on gene: EXTL3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 EXOC3L2 Arina Puzriakova commented on gene: EXOC3L2
Fetal anomalies v1.836 ENPP1 Arina Puzriakova commented on gene: ENPP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 EMX2 Arina Puzriakova commented on gene: EMX2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 EML1 Arina Puzriakova commented on gene: EML1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 EIF5A Arina Puzriakova commented on gene: EIF5A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 EIF2S3 Arina Puzriakova commented on gene: EIF2S3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 EED Arina Puzriakova commented on gene: EED: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DZIP1L Arina Puzriakova commented on gene: DZIP1L: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DYNC2LI1 Arina Puzriakova commented on gene: DYNC2LI1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DPM3 Arina Puzriakova commented on gene: DPM3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DPM2 Arina Puzriakova commented on gene: DPM2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DONSON Arina Puzriakova commented on gene: DONSON: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DNM2 Arina Puzriakova commented on gene: DNM2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DNM1L Arina Puzriakova commented on gene: DNM1L: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DNAL1 Arina Puzriakova commented on gene: DNAL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DNAJB11 Arina Puzriakova commented on gene: DNAJB11: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DNAI2 Arina Puzriakova commented on gene: DNAI2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DNAAF5 Arina Puzriakova commented on gene: DNAAF5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DNAAF2 Arina Puzriakova commented on gene: DNAAF2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DLX5 Arina Puzriakova commented on gene: DLX5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DISP1 Arina Puzriakova commented on gene: DISP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DIAPH1 Arina Puzriakova commented on gene: DIAPH1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DENND5A Arina Puzriakova commented on gene: DENND5A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DDX59 Arina Puzriakova commented on gene: DDX59: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CYP4F22 Arina Puzriakova commented on gene: CYP4F22: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CYP26B1 Arina Puzriakova commented on gene: CYP26B1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CTU2 Arina Puzriakova commented on gene: CTU2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CTNND1 Arina Puzriakova commented on gene: CTNND1
Fetal anomalies v1.836 CSF1R Arina Puzriakova commented on gene: CSF1R: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CRIPT Arina Puzriakova commented on gene: CRIPT: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CREB3L1 Arina Puzriakova commented on gene: CREB3L1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CRADD Arina Puzriakova commented on gene: CRADD: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 COLQ Arina Puzriakova commented on gene: COLQ: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 COLEC10 Arina Puzriakova commented on gene: COLEC10: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 COL13A1 Arina Puzriakova commented on gene: COL13A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 COL12A1 Arina Puzriakova commented on gene: COL12A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 COG6 Arina Puzriakova commented on gene: COG6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 COG5 Arina Puzriakova commented on gene: COG5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CLP1 Arina Puzriakova commented on gene: CLP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CIT Arina Puzriakova commented on gene: CIT: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CHRNE Arina Puzriakova commented on gene: CHRNE: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CHRNB1 Arina Puzriakova commented on gene: CHRNB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CHRNA3 Arina Puzriakova commented on gene: CHRNA3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CHMP1A Arina Puzriakova commented on gene: CHMP1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CFL2 Arina Puzriakova commented on gene: CFL2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CERS3 Arina Puzriakova commented on gene: CERS3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CEP63 Arina Puzriakova commented on gene: CEP63: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CEP55 Arina Puzriakova commented on gene: CEP55
Fetal anomalies v1.836 CEP135 Arina Puzriakova commented on gene: CEP135: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CENPF Arina Puzriakova commented on gene: CENPF: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CELSR1 Arina Puzriakova commented on gene: CELSR1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CDK8 Arina Puzriakova commented on gene: CDK8: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CDK5RAP2 Arina Puzriakova commented on gene: CDK5RAP2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CCDC88C Arina Puzriakova commented on gene: CCDC88C: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CCDC8 Arina Puzriakova commented on gene: CCDC8: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CCDC151 Arina Puzriakova commented on gene: CCDC151: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CASR Arina Puzriakova commented on gene: CASR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CANT1 Arina Puzriakova commented on gene: CANT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CACNA1G Arina Puzriakova commented on gene: CACNA1G: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 C2CD3 Arina Puzriakova commented on gene: C2CD3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 C21orf59 Arina Puzriakova commented on gene: C21orf59: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 BNC2 Arina Puzriakova commented on gene: BNC2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 B9D2 Arina Puzriakova commented on gene: B9D2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 B4GAT1 Arina Puzriakova commented on gene: B4GAT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 B3GALNT2 Arina Puzriakova commented on gene: B3GALNT2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ATR Arina Puzriakova commented on gene: ATR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ATP1A2 Arina Puzriakova commented on gene: ATP1A2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ARHGAP29 Arina Puzriakova commented on gene: ARHGAP29: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ARFGEF2 Arina Puzriakova commented on gene: ARFGEF2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ANTXR2 Arina Puzriakova commented on gene: ANTXR2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ANKS6 Arina Puzriakova commented on gene: ANKS6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 AMMECR1 Arina Puzriakova commented on gene: AMMECR1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 AMACR Arina Puzriakova commented on gene: AMACR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ALOXE3 Arina Puzriakova commented on gene: ALOXE3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ALOX12B Arina Puzriakova commented on gene: ALOX12B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ALG9 Arina Puzriakova commented on gene: ALG9
Fetal anomalies v1.836 ALG2 Arina Puzriakova commented on gene: ALG2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 AKT2 Arina Puzriakova commented on gene: AKT2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 AHCY Arina Puzriakova commented on gene: AHCY: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ADAMTS3 Arina Puzriakova commented on gene: ADAMTS3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ABL1 Arina Puzriakova commented on gene: ABL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Congenital disorders of glycosylation v2.80 CSGALNACT1 Sarah Leigh Tag for-review was removed from gene: CSGALNACT1.
Congenital disorders of glycosylation v2.80 CSGALNACT1 Sarah Leigh changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.835 ZSWIM6 Arina Puzriakova Source Expert Review Green was added to ZSWIM6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ZMYND10 Arina Puzriakova Source Expert Review Green was added to ZMYND10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 XYLT2 Arina Puzriakova Source Expert Review Green was added to XYLT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 WDR81 Arina Puzriakova Source Expert Review Green was added to WDR81.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 WDR73 Arina Puzriakova Source Expert Review Green was added to WDR73.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 VRK1 Arina Puzriakova Source Expert Review Green was added to VRK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 VEGFC Arina Puzriakova Source Expert Review Green was added to VEGFC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 VAMP1 Arina Puzriakova Source Expert Review Green was added to VAMP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 USP9X Arina Puzriakova Source Expert Review Green was added to USP9X.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 USP18 Arina Puzriakova Source Expert Review Green was added to USP18.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 UBE2T Arina Puzriakova Source Expert Review Green was added to UBE2T.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TXNDC15 Arina Puzriakova Source Expert Review Green was added to TXNDC15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TUBGCP4 Arina Puzriakova Source Expert Review Green was added to TUBGCP4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TUBG1 Arina Puzriakova Source Expert Review Green was added to TUBG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TUBB3 Arina Puzriakova Source Expert Review Green was added to TUBB3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TSFM Arina Puzriakova Source Expert Review Green was added to TSFM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TSEN34 Arina Puzriakova Source Expert Review Green was added to TSEN34.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TSEN2 Arina Puzriakova Source Expert Review Green was added to TSEN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TRMT10A Arina Puzriakova Source Expert Review Green was added to TRMT10A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v2.80 PIGS Sarah Leigh changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.835 TRAPPC12 Arina Puzriakova Source Expert Review Green was added to TRAPPC12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TRAP1 Arina Puzriakova Source Expert Review Green was added to TRAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TRAIP Arina Puzriakova Source Expert Review Green was added to TRAIP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TRAF3IP1 Arina Puzriakova Source Expert Review Green was added to TRAF3IP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TOR1A Arina Puzriakova Source Expert Review Green was added to TOR1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TOE1 Arina Puzriakova Source Expert Review Green was added to TOE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TNNT3 Arina Puzriakova Source Expert Review Green was added to TNNT3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TMX2 Arina Puzriakova Source Expert Review Green was added to TMX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TMEM98 Arina Puzriakova Source Expert Review Green was added to TMEM98.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TMEM38B Arina Puzriakova Source Expert Review Green was added to TMEM38B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TMEM216 Arina Puzriakova Source Expert Review Green was added to TMEM216.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TMEM107 Arina Puzriakova Source Expert Review Green was added to TMEM107.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TENM3 Arina Puzriakova Source Expert Review Green was added to TENM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TELO2 Arina Puzriakova Source Expert Review Green was added to TELO2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TCTEX1D2 Arina Puzriakova Source Expert Review Green was added to TCTEX1D2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TBC1D32 Arina Puzriakova Source Expert Review Green was added to TBC1D32.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SULT2B1 Arina Puzriakova Source Expert Review Green was added to SULT2B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SUFU Arina Puzriakova Source Expert Review Green was added to SUFU.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 STRADA Arina Puzriakova Source Expert Review Green was added to STRADA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 STIL Arina Puzriakova Source Expert Review Green was added to STIL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v2.80 PIGS Sarah Leigh Tag for-review was removed from gene: PIGS.
Fetal anomalies v1.835 STAC3 Arina Puzriakova Source Expert Review Green was added to STAC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ST14 Arina Puzriakova Source Expert Review Green was added to ST14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SPECC1L Arina Puzriakova Source Expert Review Green was added to SPECC1L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SPARC Arina Puzriakova Source Expert Review Green was added to SPARC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SP7 Arina Puzriakova Source Expert Review Green was added to SP7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SOX6 Arina Puzriakova Source Expert Review Green was added to SOX6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SOX18 Arina Puzriakova Source Expert Review Green was added to SOX18.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SNX10 Arina Puzriakova Source Expert Review Green was added to SNX10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SMS Arina Puzriakova Source Expert Review Green was added to SMS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SMPD4 Arina Puzriakova Source Expert Review Green was added to SMPD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SMG9 Arina Puzriakova Source Expert Review Green was added to SMG9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SMARCE1 Arina Puzriakova Source Expert Review Green was added to SMARCE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SMARCC1 Arina Puzriakova Source Expert Review Green was added to SMARCC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SLC6A9 Arina Puzriakova Source Expert Review Green was added to SLC6A9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SLC5A7 Arina Puzriakova Source Expert Review Green was added to SLC5A7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SLC29A3 Arina Puzriakova Source Expert Review Green was added to SLC29A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SLC25A19 Arina Puzriakova Source Expert Review Green was added to SLC25A19.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SLC18A3 Arina Puzriakova Source Expert Review Green was added to SLC18A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SIX6 Arina Puzriakova Source Expert Review Green was added to SIX6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SHANK3 Arina Puzriakova Source Expert Review Green was added to SHANK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SGCG Arina Puzriakova Source Expert Review Green was added to SGCG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SERPINH1 Arina Puzriakova Source Expert Review Green was added to SERPINH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SERPINF1 Arina Puzriakova Source Expert Review Green was added to SERPINF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SEC24D Arina Puzriakova Source Expert Review Green was added to SEC24D.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SDR9C7 Arina Puzriakova Source Expert Review Green was added to SDR9C7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SCN1A Arina Puzriakova Source Expert Review Green was added to SCN1A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v1.835 SCLT1 Arina Puzriakova Source Expert Review Green was added to SCLT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RSPH9 Arina Puzriakova Source Expert Review Green was added to RSPH9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RSPH4A Arina Puzriakova Source Expert Review Green was added to RSPH4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RRAS2 Arina Puzriakova Source Expert Review Green was added to RRAS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RPS7 Arina Puzriakova Source Expert Review Green was added to RPS7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RPS24 Arina Puzriakova Source Expert Review Green was added to RPS24.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RPL35A Arina Puzriakova Source Expert Review Green was added to RPL35A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RPL10 Arina Puzriakova Source Expert Review Green was added to RPL10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ROBO3 Arina Puzriakova Source Expert Review Green was added to ROBO3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RFT1 Arina Puzriakova Source Expert Review Green was added to RFT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RBM10 Arina Puzriakova Source Expert Review Green was added to RBM10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RBBP8 Arina Puzriakova Source Expert Review Green was added to RBBP8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RAB33B Arina Puzriakova Source Expert Review Green was added to RAB33B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PYGM Arina Puzriakova Source Expert Review Green was added to PYGM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PTPN14 Arina Puzriakova Source Expert Review Green was added to PTPN14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PSAT1 Arina Puzriakova Source Expert Review Green was added to PSAT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PRUNE1 Arina Puzriakova Source Expert Review Green was added to PRUNE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PRKAG2 Arina Puzriakova Source Expert Review Green was added to PRKAG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PRIM1 Arina Puzriakova Source Expert Review Green was added to PRIM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 POP1 Arina Puzriakova Source Expert Review Green was added to POP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 POLR1B Arina Puzriakova Source Expert Review Green was added to POLR1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 POLR1A Arina Puzriakova Source Expert Review Green was added to POLR1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 POLG2 Arina Puzriakova Source Expert Review Green was added to POLG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 POLE Arina Puzriakova Source Expert Review Green was added to POLE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PNPLA1 Arina Puzriakova Source Expert Review Green was added to PNPLA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PLG Arina Puzriakova Source Expert Review Green was added to PLG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PLAG1 Arina Puzriakova Source Expert Review Green was added to PLAG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v2.80 ALG14 Sarah Leigh changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.835 PITX1 Arina Puzriakova Source Expert Review Green was added to PITX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PIK3C2A Arina Puzriakova Source Expert Review Green was added to PIK3C2A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PIH1D3 Arina Puzriakova Source Expert Review Green was added to PIH1D3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PIGN Arina Puzriakova Source Expert Review Green was added to PIGN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PIBF1 Arina Puzriakova Source Expert Review Green was added to PIBF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PGM3 Arina Puzriakova Source Expert Review Green was added to PGM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PFKM Arina Puzriakova Source Expert Review Green was added to PFKM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PBX1 Arina Puzriakova Source Expert Review Green was added to PBX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PAX7 Arina Puzriakova Source Expert Review Green was added to PAX7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 P4HB Arina Puzriakova Source Expert Review Green was added to P4HB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 OSGEP Arina Puzriakova Source Expert Review Green was added to OSGEP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 NXN Arina Puzriakova Source Expert Review Green was added to NXN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 NIPAL4 Arina Puzriakova Source Expert Review Green was added to NIPAL4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 NEK8 Arina Puzriakova Source Expert Review Green was added to NEK8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 NEDD4L Arina Puzriakova Source Expert Review Green was added to NEDD4L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 NECTIN1 Arina Puzriakova Source Expert Review Green was added to NECTIN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 NADSYN1 Arina Puzriakova Source Expert Review Green was added to NADSYN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MYPN Arina Puzriakova Source Expert Review Green was added to MYPN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MYOCD Arina Puzriakova Source Expert Review Green was added to MYOCD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MYO9A Arina Puzriakova Source Expert Review Green was added to MYO9A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MYO18B Arina Puzriakova Source Expert Review Green was added to MYO18B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MYMK Arina Puzriakova Source Expert Review Green was added to MYMK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MYL1 Arina Puzriakova Source Expert Review Green was added to MYL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MYH7 Arina Puzriakova Source Expert Review Green was added to MYH7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v2.80 ALG14 Sarah Leigh Tag for-review was removed from gene: ALG14.
Fetal anomalies v1.835 MYH2 Arina Puzriakova Source Expert Review Green was added to MYH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MSTO1 Arina Puzriakova Source Expert Review Green was added to MSTO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MSMO1 Arina Puzriakova Source Expert Review Green was added to MSMO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MRAS Arina Puzriakova Source Expert Review Green was added to MRAS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MOGS Arina Puzriakova Source Expert Review Green was added to MOGS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MN1 Arina Puzriakova Source Expert Review Green was added to MN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MESD Arina Puzriakova Source Expert Review Green was added to MESD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MEOX1 Arina Puzriakova Source Expert Review Green was added to MEOX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MEIS2 Arina Puzriakova Source Expert Review Green was added to MEIS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MAP3K7 Arina Puzriakova Source Expert Review Green was added to MAP3K7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MAP3K20 Arina Puzriakova Source Expert Review Green was added to MAP3K20.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MACF1 Arina Puzriakova Source Expert Review Green was added to MACF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 LRRC56 Arina Puzriakova Source Expert Review Green was added to LRRC56.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 LONP1 Arina Puzriakova Source Expert Review Green was added to LONP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 LMNB2 Arina Puzriakova Source Expert Review Green was added to LMNB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 LMNB1 Arina Puzriakova Source Expert Review Green was added to LMNB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 LAMB1 Arina Puzriakova Source Expert Review Green was added to LAMB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 KNL1 Arina Puzriakova Source Expert Review Green was added to KNL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 KLHL7 Arina Puzriakova Source Expert Review Green was added to KLHL7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 KIF5C Arina Puzriakova Source Expert Review Green was added to KIF5C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 KIF2A Arina Puzriakova Source Expert Review Green was added to KIF2A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 KIF14 Arina Puzriakova Source Expert Review Green was added to KIF14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 KIAA0753 Arina Puzriakova Source Expert Review Green was added to KIAA0753.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 KATNB1 Arina Puzriakova Source Expert Review Green was added to KATNB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ITGA8 Arina Puzriakova Source Expert Review Green was added to ITGA8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 IFT81 Arina Puzriakova Source Expert Review Green was added to IFT81.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 IFT52 Arina Puzriakova Source Expert Review Green was added to IFT52.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 IDH1 Arina Puzriakova Source Expert Review Green was added to IDH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ICK Arina Puzriakova Source Expert Review Green was added to ICK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 HMGA2 Arina Puzriakova Source Expert Review Green was added to HMGA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 HIST1H1E Arina Puzriakova Source Expert Review Green was added to HIST1H1E.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 HESX1 Arina Puzriakova Source Expert Review Green was added to HESX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 HADHB Arina Puzriakova Source Expert Review Green was added to HADHB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GZF1 Arina Puzriakova Source Expert Review Green was added to GZF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GSC Arina Puzriakova Source Expert Review Green was added to GSC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GREB1L Arina Puzriakova Source Expert Review Green was added to GREB1L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GPC6 Arina Puzriakova Source Expert Review Green was added to GPC6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GMNN Arina Puzriakova Source Expert Review Green was added to GMNN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GLI1 Arina Puzriakova Source Expert Review Green was added to GLI1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GFPT1 Arina Puzriakova Source Expert Review Green was added to GFPT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GATA3 Arina Puzriakova Source Expert Review Green was added to GATA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GANAB Arina Puzriakova Source Expert Review Green was added to GANAB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GALNT2 Arina Puzriakova Source Expert Review Green was added to GALNT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 FZD2 Arina Puzriakova Source Expert Review Green was added to FZD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 FUT8 Arina Puzriakova Source Expert Review Green was added to FUT8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 FLNC Arina Puzriakova Source Expert Review Green was added to FLNC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 FKBP10 Arina Puzriakova Source Expert Review Green was added to FKBP10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 FIG4 Arina Puzriakova Source Expert Review Green was added to FIG4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 FANCL Arina Puzriakova Source Expert Review Green was added to FANCL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 FAM46A Arina Puzriakova Source Expert Review Green was added to FAM46A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 EXTL3 Arina Puzriakova Source Expert Review Green was added to EXTL3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 EXOC3L2 Arina Puzriakova Source Expert Review Green was added to EXOC3L2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ENPP1 Arina Puzriakova Source Expert Review Green was added to ENPP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 EMX2 Arina Puzriakova Source Expert Review Green was added to EMX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 EML1 Arina Puzriakova Source Expert Review Green was added to EML1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 EIF5A Arina Puzriakova Source Expert Review Green was added to EIF5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 EIF2S3 Arina Puzriakova Source Expert Review Green was added to EIF2S3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 EED Arina Puzriakova Source Expert Review Green was added to EED.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DZIP1L Arina Puzriakova Source Expert Review Green was added to DZIP1L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DYNC2LI1 Arina Puzriakova Source Expert Review Green was added to DYNC2LI1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DPM3 Arina Puzriakova Source Expert Review Green was added to DPM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DPM2 Arina Puzriakova Source Expert Review Green was added to DPM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DONSON Arina Puzriakova Source Expert Review Green was added to DONSON.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DNM2 Arina Puzriakova Source Expert Review Green was added to DNM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v2.80 STT3A Sarah Leigh changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.835 DNM1L Arina Puzriakova Source Expert Review Green was added to DNM1L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DNAL1 Arina Puzriakova Source Expert Review Green was added to DNAL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DNAJB11 Arina Puzriakova Source Expert Review Green was added to DNAJB11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DNAI2 Arina Puzriakova Source Expert Review Green was added to DNAI2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DNAAF5 Arina Puzriakova Source Expert Review Green was added to DNAAF5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DNAAF2 Arina Puzriakova Source Expert Review Green was added to DNAAF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DLX5 Arina Puzriakova Source Expert Review Green was added to DLX5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DISP1 Arina Puzriakova Source Expert Review Green was added to DISP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DIAPH1 Arina Puzriakova Source Expert Review Green was added to DIAPH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DENND5A Arina Puzriakova Source Expert Review Green was added to DENND5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DDX59 Arina Puzriakova Source Expert Review Green was added to DDX59.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CYP4F22 Arina Puzriakova Source Expert Review Green was added to CYP4F22.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CYP26B1 Arina Puzriakova Source Expert Review Green was added to CYP26B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CTU2 Arina Puzriakova Source Expert Review Green was added to CTU2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CTNND1 Arina Puzriakova Source Expert Review Green was added to CTNND1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CSF1R Arina Puzriakova Source Expert Review Green was added to CSF1R.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CRIPT Arina Puzriakova Source Expert Review Green was added to CRIPT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CREB3L1 Arina Puzriakova Source Expert Review Green was added to CREB3L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CRADD Arina Puzriakova Source Expert Review Green was added to CRADD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 COLQ Arina Puzriakova Source Expert Review Green was added to COLQ.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 COLEC10 Arina Puzriakova Source Expert Review Green was added to COLEC10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 COL13A1 Arina Puzriakova Source Expert Review Green was added to COL13A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 COL12A1 Arina Puzriakova Source Expert Review Green was added to COL12A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 COG6 Arina Puzriakova Source Expert Review Green was added to COG6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 COG5 Arina Puzriakova Source Expert Review Green was added to COG5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CLP1 Arina Puzriakova Source Expert Review Green was added to CLP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CIT Arina Puzriakova Source Expert Review Green was added to CIT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CHRNE Arina Puzriakova Source Expert Review Green was added to CHRNE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CHRNB1 Arina Puzriakova Source Expert Review Green was added to CHRNB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CHRNA3 Arina Puzriakova Source Expert Review Green was added to CHRNA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CHMP1A Arina Puzriakova Source Expert Review Green was added to CHMP1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CFL2 Arina Puzriakova Source Expert Review Green was added to CFL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CERS3 Arina Puzriakova Source Expert Review Green was added to CERS3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CEP63 Arina Puzriakova Source Expert Review Green was added to CEP63.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CEP55 Arina Puzriakova Source Expert Review Green was added to CEP55.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CEP135 Arina Puzriakova Source Expert Review Green was added to CEP135.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CENPF Arina Puzriakova Source Expert Review Green was added to CENPF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CELSR1 Arina Puzriakova Source Expert Review Green was added to CELSR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CDK8 Arina Puzriakova Source Expert Review Green was added to CDK8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CDK5RAP2 Arina Puzriakova Source Expert Review Green was added to CDK5RAP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CCDC88C Arina Puzriakova Source Expert Review Green was added to CCDC88C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CCDC8 Arina Puzriakova Source Expert Review Green was added to CCDC8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CCDC151 Arina Puzriakova Source Expert Review Green was added to CCDC151.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CASR Arina Puzriakova Source Expert Review Green was added to CASR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CANT1 Arina Puzriakova Source Expert Review Green was added to CANT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CACNA1G Arina Puzriakova Source Expert Review Green was added to CACNA1G.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 C2CD3 Arina Puzriakova Source Expert Review Green was added to C2CD3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 C21orf59 Arina Puzriakova Source Expert Review Green was added to C21orf59.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 BNC2 Arina Puzriakova Source Expert Review Green was added to BNC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 B9D2 Arina Puzriakova Source Expert Review Green was added to B9D2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 B4GAT1 Arina Puzriakova Source Expert Review Green was added to B4GAT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 B3GALNT2 Arina Puzriakova Source Expert Review Green was added to B3GALNT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ATR Arina Puzriakova Source Expert Review Green was added to ATR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ATP1A2 Arina Puzriakova Source Expert Review Green was added to ATP1A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ARHGAP29 Arina Puzriakova Source Expert Review Green was added to ARHGAP29.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ARFGEF2 Arina Puzriakova Source Expert Review Green was added to ARFGEF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ANTXR2 Arina Puzriakova Source Expert Review Green was added to ANTXR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ANKS6 Arina Puzriakova Source Expert Review Green was added to ANKS6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 AMMECR1 Arina Puzriakova Source Expert Review Green was added to AMMECR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 AMACR Arina Puzriakova Source Expert Review Green was added to AMACR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ALOXE3 Arina Puzriakova Source Expert Review Green was added to ALOXE3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ALOX12B Arina Puzriakova Source Expert Review Green was added to ALOX12B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ALG9 Arina Puzriakova Source Expert Review Green was added to ALG9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ALG2 Arina Puzriakova Source Expert Review Green was added to ALG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 AKT2 Arina Puzriakova Source Expert Review Green was added to AKT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 AHCY Arina Puzriakova Source Expert Review Green was added to AHCY.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ADAMTS3 Arina Puzriakova Source Expert Review Green was added to ADAMTS3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ABL1 Arina Puzriakova Source Expert Review Green was added to ABL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v2.80 STT3A Sarah Leigh Tag for-review was removed from gene: STT3A.
Congenital disorders of glycosylation v2.80 GMPPA Sarah Leigh changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Congenital disorders of glycosylation v2.80 GMPPA Sarah Leigh Tag for-review was removed from gene: GMPPA.
Childhood solid tumours v2.25 GPR161 Arina Puzriakova Tag for-review was removed from gene: GPR161.
Childhood solid tumours v2.25 ELP1 Arina Puzriakova Tag for-review was removed from gene: ELP1.
Congenital disorders of glycosylation v2.80 GMPPA Sarah Leigh commented on gene: GMPPA: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Congenital disorders of glycosylation v2.80 CSGALNACT1 Sarah Leigh commented on gene: CSGALNACT1
Childhood solid tumours v2.25 GPR161 Arina Puzriakova commented on gene: GPR161: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Congenital disorders of glycosylation v2.80 PIGS Sarah Leigh commented on gene: PIGS: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Childhood solid tumours v2.25 ELP1 Arina Puzriakova commented on gene: ELP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Congenital disorders of glycosylation v2.80 GALNT2 Sarah Leigh commented on gene: GALNT2: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Congenital disorders of glycosylation v2.80 ALG14 Sarah Leigh commented on gene: ALG14: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Congenital disorders of glycosylation v2.80 STT3A Sarah Leigh commented on gene: STT3A: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Childhood solid tumours v2.24 GPR161 Arina Puzriakova Source Expert Review Green was added to GPR161.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood solid tumours v2.24 ELP1 Arina Puzriakova Source Expert Review Green was added to ELP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v2.79 GMPPA Sarah Leigh Source Expert Review Green was added to GMPPA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v2.79 CSGALNACT1 Sarah Leigh Source Expert Review Green was added to CSGALNACT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v2.79 PIGS Sarah Leigh Source Expert Review Green was added to PIGS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v2.79 GALNT2 Sarah Leigh Source Expert Review Green was added to GALNT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v2.79 ALG14 Sarah Leigh Source Expert Review Green was added to ALG14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v2.79 STT3A Sarah Leigh Source Expert Review Green was added to STT3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Inherited ovarian cancer (without breast cancer) v2.24 PALB2 Arina Puzriakova Tag for-review was removed from gene: PALB2.
Inherited ovarian cancer (without breast cancer) v2.24 PALB2 Arina Puzriakova edited their review of gene: PALB2: 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 this gene as Green.; Changed rating: GREEN
Inherited ovarian cancer (without breast cancer) v2.23 PALB2 Arina Puzriakova Source Expert Review Green was added to PALB2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v1.63 TOR1AIP1 Ivone Leong Tag for-review was removed from gene: TOR1AIP1.
Paediatric or syndromic cardiomyopathy v1.63 SHMT2 Ivone Leong Tag for-review was removed from gene: SHMT2.
Paediatric or syndromic cardiomyopathy v1.63 FNIP1 Ivone Leong Tag for-review was removed from gene: FNIP1.
Paediatric or syndromic cardiomyopathy v1.63 MRAS Ivone Leong Tag for-review was removed from gene: MRAS.
Paediatric or syndromic cardiomyopathy v1.63 TOR1AIP1 Ivone Leong commented on gene: TOR1AIP1: Submitted on behalf of NHS GMS "May be appropriate on a congenital malformation/syndromic panel (R27) but not on R135."
Paediatric or syndromic cardiomyopathy v1.63 SHMT2 Ivone Leong commented on gene: SHMT2: Submitted on behalf of NHS GMS "May be appropriate on a congenital malformation/syndromic panel (R27) but not on R135."
Paediatric or syndromic cardiomyopathy v1.63 FNIP1 Ivone Leong commented on gene: FNIP1: Submitted on behalf of NHS GMS "May be appropriate on a congenital malformation/syndromic panel (R27) or R15 immunodeficiency but not on R135"
Paediatric or syndromic cardiomyopathy v1.63 TOR1AIP1 Ivone Leong commented on gene: TOR1AIP1
Paediatric or syndromic cardiomyopathy v1.63 SHMT2 Ivone Leong commented on gene: SHMT2
Paediatric or syndromic cardiomyopathy v1.63 MRAS Ivone Leong commented on gene: MRAS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.63 FNIP1 Ivone Leong commented on gene: FNIP1
Paediatric or syndromic cardiomyopathy v1.62 MRAS Ivone Leong Source Expert Review Green was added to MRAS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - narrow panel v1.220 SNORD118 Jenny Simmonds reviewed gene: SNORD118: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33029936, 27571260; Phenotypes: Leukoencephalopathy, brain calcifications, and cysts; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiac arrhythmias - additional genes v1.15 TANGO2 Ivone Leong Tag for-review was removed from gene: TANGO2.
Cardiac arrhythmias - additional genes v1.15 TANGO2 Ivone Leong commented on gene: TANGO2
Arrhythmogenic right ventricular cardiomyopathy v2.15 TTN Ivone Leong Tag for-review was removed from gene: TTN.
Arrhythmogenic right ventricular cardiomyopathy v2.15 RYR2 Ivone Leong Tag for-review was removed from gene: RYR2.
Arrhythmogenic right ventricular cardiomyopathy v2.15 CDH2 Ivone Leong Tag for-review was removed from gene: CDH2.
Arrhythmogenic right ventricular cardiomyopathy v2.15 TTN Ivone Leong commented on gene: TTN: Submitted on behalf of NHS GMS "NHS disagree that TTN should be Green on the panel."
Arrhythmogenic right ventricular cardiomyopathy v2.15 TTN Ivone Leong commented on gene: TTN: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Arrhythmogenic right ventricular cardiomyopathy v2.15 RYR2 Ivone Leong commented on gene: RYR2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Arrhythmogenic right ventricular cardiomyopathy v2.15 CDH2 Ivone Leong commented on gene: CDH2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Arrhythmogenic right ventricular cardiomyopathy v2.14 RYR2 Ivone Leong Source Expert Review Red was added to RYR2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Arrhythmogenic right ventricular cardiomyopathy v2.14 CDH2 Ivone Leong Source Expert Review Amber was added to CDH2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Haematological malignancies cancer susceptibility v2.23 MBD4 Arina Puzriakova Tag for-review was removed from gene: MBD4.
Haematological malignancies cancer susceptibility v2.23 IKZF1 Arina Puzriakova Tag for-review was removed from gene: IKZF1.
Haematological malignancies cancer susceptibility v2.23 DNAJC21 Arina Puzriakova Tag for-review was removed from gene: DNAJC21.
Haematological malignancies cancer susceptibility v2.23 TSR2 Arina Puzriakova Tag for-review was removed from gene: TSR2.
Haematological malignancies cancer susceptibility v2.23 MBD4 Arina Puzriakova commented on gene: MBD4: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Haematological malignancies cancer susceptibility v2.23 IKZF1 Arina Puzriakova commented on gene: IKZF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Haematological malignancies cancer susceptibility v2.23 DNAJC21 Arina Puzriakova commented on gene: DNAJC21: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Haematological malignancies cancer susceptibility v2.23 TSR2 Arina Puzriakova commented on gene: TSR2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Haematological malignancies cancer susceptibility v2.22 IKZF1 Arina Puzriakova Source Expert Review Green was added to IKZF1.
Source NHS GMS was added to IKZF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Haematological malignancies cancer susceptibility v2.22 DNAJC21 Arina Puzriakova Source Expert Review Green was added to DNAJC21.
Source NHS GMS was added to DNAJC21.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Haematological malignancies cancer susceptibility v2.22 TSR2 Arina Puzriakova Source NHS GMS was added to TSR2.
Source Expert Review Red was added to TSR2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Familial melanoma v1.12 POT1 Arina Puzriakova Tag for-review was removed from gene: POT1.
Familial melanoma v1.12 POT1 Arina Puzriakova commented on gene: POT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Familial melanoma v1.11 POT1 Arina Puzriakova Source Expert Review Green was added to POT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection (GMS) v1.21 LTBP3 Eleanor Williams Added comment: Comment on mode of inheritance: Note monoallelic variants in this gene have also been reported in association with Geleophysic dysplasia 3 but a cardiac phenotype is not noted in these cases to date.
Thoracic aortic aneurysm or dissection (GMS) v1.21 LTBP3 Eleanor Williams Mode of inheritance for gene: LTBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection (GMS) v1.20 LTBP3 Eleanor Williams Tag Q1_22_rating tag was added to gene: LTBP3.
Thoracic aortic aneurysm or dissection (GMS) v1.20 LTBP3 Eleanor Williams Classified gene: LTBP3 as Amber List (moderate evidence)
Thoracic aortic aneurysm or dissection (GMS) v1.20 LTBP3 Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber, but with a recommendation for GREEN rating following GMS review.
Thoracic aortic aneurysm or dissection (GMS) v1.20 LTBP3 Eleanor Williams Gene: ltbp3 has been classified as Amber List (Moderate Evidence).
Thoracic aortic aneurysm or dissection (GMS) v1.19 LTBP3 Eleanor Williams Phenotypes for gene: LTBP3 were changed from Short stature; dental anomalies; aortopathy; facial dysmorphism; learning disability to Short stature; dental anomalies; aortopathy; facial dysmorphism; learning disability; Dental anomalies and short stature, OMIM:601216
Thoracic aortic aneurysm or dissection (GMS) v1.18 LTBP3 Eleanor Williams reviewed gene: LTBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dental anomalies and short stature, OMIM:601216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.834 LTBP3 Eleanor Williams Added comment: Comment on mode of inheritance: Recommending that the mode of inheritance should be updated to Both mono- and bi-allelic as relevant phenotypes associated with this gene are associated with both mono (geleophysic dysplasia) and biallelic (dental anomalies and short stature) variants.
Fetal anomalies v1.834 LTBP3 Eleanor Williams Mode of inheritance for gene: LTBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.833 LTBP3 Eleanor Williams Tag Q1_22_MOI tag was added to gene: LTBP3.
Amelogenesis imperfecta v2.16 LTBP3 Eleanor Williams changed review comment from: Leaving the mode of inheritance as Biallelic. Cases reporting a dental phenotype have all had biallelic variants.
Monoallelic cases have also been reported with geleophysic dysplasia and acromelic dysplasia and therefore the mode of inheritance on the skeletal dysplasia panel covers both mode of inheritance.; to: Leaving the mode of inheritance as Biallelic. Cases reporting a dental phenotype have all had biallelic variants.

Monoallelic cases have also been reported with geleophysic dysplasia and acromelic dysplasia phenotypes and therefore the mode of inheritance on the skeletal dysplasia panel covers both mode of inheritance.
Amelogenesis imperfecta v2.16 LTBP3 Eleanor Williams commented on gene: LTBP3
Amelogenesis imperfecta v2.16 LTBP3 Eleanor Williams Publications for gene: LTBP3 were set to 25669657; 28084688
Amelogenesis imperfecta v2.15 LTBP3 Eleanor Williams Phenotypes for gene: LTBP3 were changed from Dental anomalies and short stature, 601216; Amelogenesis Imperfecta; syndromic AI with brachyolmia to Dental anomalies and short stature, OMIM:601216; Amelogenesis Imperfecta; syndromic AI with brachyolmia
Skeletal dysplasia v2.174 LTBP3 Eleanor Williams Phenotypes for gene: LTBP3 were changed from Geleophysic dysplasia 3 617809; Dental anomalies and short stature 610216; Geleophysic dysplasia 3 617809 to Geleophysic dysplasia 3, OMIM:617809; Dental anomalies and short stature, OMIM:610216; geleophysic dysplasia 3, MONDO:0054722,
Skeletal dysplasia v2.173 LTBP3 Eleanor Williams Publications for gene: LTBP3 were set to 27068007
Skeletal dysplasia v2.172 LTBP3 Eleanor Williams Added comment: Comment on mode of inheritance: The mode of inheritance should be updated to Both mono- and bi-allelic at the next GMS review.
Skeletal dysplasia v2.172 LTBP3 Eleanor Williams Mode of inheritance for gene: LTBP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia v2.171 LTBP3 Eleanor Williams Tag Q1_22_NHS_review tag was added to gene: LTBP3.
Tag Q1_22_MOI tag was added to gene: LTBP3.
Skeletal dysplasia v2.171 LTBP3 Eleanor Williams changed review comment from: This gene originally had the mode of inheritance set to monoallelic based on the Geleophysic dysplasia 3 OMIM:617809 phenotype.

As Tracy Lester reports there are more than cases of patients with both a dental phenotype and short stature and so the mode of inheritance should be updated to both mono- and bi-allelic.

PMID: 25899461 - Dugan et al 2015 - 2 sisters with homozygous truncating mutations (1 bp insertion) in LTBP3. Only this gene was analysed. They presented with oligodontia, short stature and mitral valve prolapse.

PMID: 25669657 - Huckert et al 2015 - report 4 families (3 consanguineous) with a phenotype of significant short stature with brachyolmia and hypoplastic amelogenesis imperfecta. WES identified homozygous or compound het protein altering variants in LTBP3 in all patients (14 bp deletion, nonsense variant, splice site variant, 2 1bp deletions).

PMID:19344874 - Noor et al 2009 - consanguineous Pakistani family with oligodontia along with short stature in an autosomal-recessive fashion. A homozygous nonsense mutation, Y774X, within LTBP3 was identified.

PMID: 8721563 (abstract only accessed) and PMID: 19213025 report patients with a dental and skeletal phenotype but no genetic analysis.; to: This gene originally had the mode of inheritance set to monoallelic based on the Geleophysic dysplasia 3 OMIM:617809 phenotype. This is supported by heterozygous variants in LTBP3 reported in PMID: 27068007 (McInerney-Leo et al 2016) - 2 cases with geleophysic dysplasia and 1 with acromelic dysplasia and PMID: 33082559 (Marzin et al 2021) - 2 cases with geleophysic dysplasia and 1 with acromelic dysplasia . Dental anomalies are not reported in either set of cases.

As Tracy Lester reports there are more than 3 cases of patients with both a dental phenotype and short stature and so the mode of inheritance should be updated to both mono- and bi-allelic.

PMID: 25899461 - Dugan et al 2015 - 2 sisters with homozygous truncating mutations (1 bp insertion) in LTBP3. Only this gene was analysed. They presented with oligodontia, short stature and mitral valve prolapse.

PMID: 25669657 - Huckert et al 2015 - report 4 families (3 consanguineous) with a phenotype of significant short stature with brachyolmia and hypoplastic amelogenesis imperfecta. WES identified homozygous or compound het protein altering variants in LTBP3 in all patients (14 bp deletion, nonsense variant, splice site variant, 2 1bp deletions).

PMID:19344874 - Noor et al 2009 - consanguineous Pakistani family with oligodontia along with short stature in an autosomal-recessive fashion. A homozygous nonsense mutation, Y774X, within LTBP3 was identified.

PMID: 8721563 (abstract only accessed) and PMID: 19213025 report patients with a dental and skeletal phenotype but no genetic analysis.
Skeletal dysplasia v2.171 LTBP3 Eleanor Williams edited their review of gene: LTBP3: Added comment: This gene originally had the mode of inheritance set to monoallelic based on the Geleophysic dysplasia 3 OMIM:617809 phenotype.

As Tracy Lester reports there are more than cases of patients with both a dental phenotype and short stature and so the mode of inheritance should be updated to both mono- and bi-allelic.

PMID: 25899461 - Dugan et al 2015 - 2 sisters with homozygous truncating mutations (1 bp insertion) in LTBP3. Only this gene was analysed. They presented with oligodontia, short stature and mitral valve prolapse.

PMID: 25669657 - Huckert et al 2015 - report 4 families (3 consanguineous) with a phenotype of significant short stature with brachyolmia and hypoplastic amelogenesis imperfecta. WES identified homozygous or compound het protein altering variants in LTBP3 in all patients (14 bp deletion, nonsense variant, splice site variant, 2 1bp deletions).

PMID:19344874 - Noor et al 2009 - consanguineous Pakistani family with oligodontia along with short stature in an autosomal-recessive fashion. A homozygous nonsense mutation, Y774X, within LTBP3 was identified.

PMID: 8721563 (abstract only accessed) and PMID: 19213025 report patients with a dental and skeletal phenotype but no genetic analysis.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autoinflammatory disorders v0.36 PSMB8 Arina Puzriakova Tag digenic tag was added to gene: PSMB8.
Autoinflammatory disorders v0.36 PSMB9 Arina Puzriakova Tag digenic tag was added to gene: PSMB9.
Hereditary ataxia with onset in adulthood v2.139 NKX2-1 Sarah Leigh reviewed gene: NKX2-1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v2.139 NKX2-1 Sarah Leigh Tag Q1_22_MOI tag was added to gene: NKX2-1.
Skeletal dysplasia v2.171 LIFR Eleanor Williams changed review comment from: Comment on mode of inheritance: Mode of inheritance of BIALLELIC is correct for the Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome phenotype and this panel. Heterozygous variants and a CAKUT phenotype.; to: Comment on mode of inheritance: Mode of inheritance of BIALLELIC is correct for the Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome phenotype and this panel. Heterozygous variants are associated with a CAKUT phenotype.
Skeletal dysplasia v2.171 LIFR Eleanor Williams Added comment: Comment on mode of inheritance: Mode of inheritance of BIALLELIC is correct for the Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome phenotype and this panel. Heterozygous variants and a CAKUT phenotype.
Skeletal dysplasia v2.171 LIFR Eleanor Williams Mode of inheritance for gene: LIFR was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
CAKUT v1.166 LIFR Eleanor Williams Added comment: Comment on mode of inheritance: Mode of inheritance of MONOALLELIC is correct for the CAKUT phenotype.
CAKUT v1.166 LIFR Eleanor Williams Mode of inheritance for gene: LIFR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v2.260 UNC13A Sarah Leigh Publications for gene: UNC13A were set to
Congenital hypothyroidism v2.9 POU1F1 Arina Puzriakova Phenotypes for gene: POU1F1 were changed from Pituitary hormone deficiency, combined, 1, 613038 (Hypopthyroidism); congenital hypothyroidism to Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038; Congenital hypothyroidism
Pituitary hormone deficiency v2.12 POU1F1 Arina Puzriakova Phenotypes for gene: POU1F1 were changed from Pituitary hormone deficiency, combined, 1 (613038) to Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038
Intellectual disability v3.1506 POU1F1 Arina Puzriakova Phenotypes for gene: POU1F1 were changed from Gene2Phenotype confirmed gene with ID HPO to Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038
IUGR and IGF abnormalities v1.50 POU1F1 Arina Puzriakova Phenotypes for gene: POU1F1 were changed from GH, PRL deficiencies; variable degree of TSH deficiency to Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038; Variable degree of TSH deficiency
Fetal anomalies v1.833 POU1F1 Arina Puzriakova Phenotypes for gene: POU1F1 were changed from POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY to Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038
Intellectual disability v3.1505 POU1F1 Arina Puzriakova Mode of inheritance for gene: POU1F1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Amyotrophic lateral sclerosis/motor neuron disease v1.50 UNC13A Sarah Leigh Publications for gene: UNC13A were set to
Intellectual disability v3.1504 KCNE1 Arina Puzriakova Mode of inheritance for gene: KCNE1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v3.1503 KCNE1 Arina Puzriakova Phenotypes for gene: KCNE1 were changed from NA to Jervell and Lange-Nielsen syndrome 2, OMIM:612347; Long QT syndrome 5, OMIM:613695
Monogenic hearing loss v2.219 KCNE1 Arina Puzriakova Phenotypes for gene: KCNE1 were changed from Jervell and Lange-Nielsen syndrome 2, 612347; JLNS; Long QT syndrome-5, 613695 to Jervell and Lange-Nielsen syndrome 2, OMIM:612347
DDG2P v2.62 KCNE1 Arina Puzriakova Phenotypes for gene: KCNE1 were changed from JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2 612347; LONG QT SYNDROME-5 613695 to Jervell and Lange-Nielsen syndrome 2, OMIM:612347; Long QT syndrome 5, OMIM:613695
Fetal anomalies v1.832 KCNE1 Arina Puzriakova Phenotypes for gene: KCNE1 were changed from JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2 to Jervell and Lange-Nielsen syndrome 2, OMIM:612347
Long QT syndrome v2.29 KCNE1 Arina Puzriakova Phenotypes for gene: KCNE1 were changed from Long QT syndrome 5 (613695); Jervell and Lange-Nielsen syndrome 2 (612347) to Jervell and Lange-Nielsen syndrome 2, OMIM:612347; Long QT syndrome 5, OMIM:613695
Short QT syndrome v2.11 KCNE1 Arina Puzriakova Phenotypes for gene: KCNE1 were changed from Long QT syndrome-5 (613695); Jervell and Lange-Nielsen syndrome 2 (612347) to Jervell and Lange-Nielsen syndrome 2, OMIM:612347; Long QT syndrome 5, OMIM:613695
Structural eye disease v1.111 ASPH Ivone Leong Publications for gene: ASPH were set to 31274573; 24768550; 31012784; 34018898
Structural eye disease v1.110 CREBBP Ivone Leong Publications for gene: CREBBP were set to 25599811
Structural eye disease v1.109 CREBBP Ivone Leong Tag Q1_22_NHS_review tag was added to gene: CREBBP.
Structural eye disease v1.109 TSC2 Ivone Leong Classified gene: TSC2 as Amber List (moderate evidence)
Structural eye disease v1.109 TSC2 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. There is currently not enough evidence to support a gene-disease association.
Structural eye disease v1.109 TSC2 Ivone Leong Gene: tsc2 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.108 WDR37 Ivone Leong Tag Q1_22_NHS_review tag was added to gene: WDR37.
Structural eye disease v1.108 FZD5 Ivone Leong Tag Q1_22_NHS_review tag was added to gene: FZD5.
Structural eye disease v1.108 EPHA2 Ivone Leong Classified gene: EPHA2 as Amber List (moderate evidence)
Structural eye disease v1.108 EPHA2 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. There is currently not enough evidence to support a gene-disease association.
Structural eye disease v1.108 EPHA2 Ivone Leong Gene: epha2 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.107 DYRK1A Ivone Leong Tag Q1_22_NHS_review tag was added to gene: DYRK1A.
Structural eye disease v1.107 CRYBB3 Ivone Leong Classified gene: CRYBB3 as Amber List (moderate evidence)
Structural eye disease v1.107 CRYBB3 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. There is currently not enough evidence to support a gene-disease association.
Structural eye disease v1.107 CRYBB3 Ivone Leong Gene: crybb3 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.106 CRYBB1 Ivone Leong Tag Q1_22_NHS_review tag was added to gene: CRYBB1.
Structural eye disease v1.106 CENPF Ivone Leong Tag Q1_22_NHS_review tag was added to gene: CENPF.
Structural eye disease v1.106 CDON Ivone Leong Tag Q1_22_NHS_review tag was added to gene: CDON.
Structural eye disease v1.106 CAPN15 Ivone Leong Tag Q1_22_NHS_review tag was added to gene: CAPN15.
Structural eye disease v1.106 BRPF1 Ivone Leong Classified gene: BRPF1 as Amber List (moderate evidence)
Structural eye disease v1.106 BRPF1 Ivone Leong Added comment: Comment on list classification: This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been rated Amber.
Structural eye disease v1.106 BRPF1 Ivone Leong Gene: brpf1 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.105 BRPF1 Ivone Leong Tag Q1_22_rating was removed from gene: BRPF1.
Fetal anomalies v1.831 HSF4 Arina Puzriakova Tag Q1_22_MOI tag was added to gene: HSF4.
Fetal anomalies v1.831 HSF4 Arina Puzriakova Publications for gene: HSF4 were set to
Bilateral congenital or childhood onset cataracts v2.96 HSF4 Arina Puzriakova Publications for gene: HSF4 were set to
Fetal anomalies v1.830 HSF4 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Monoallelic' only to 'Both mono- and biallelic'. The expanded MOI is based on autosomal recessive cataract cases in PMID:19014451; 24045990; 26490182.
Fetal anomalies v1.830 HSF4 Arina Puzriakova Mode of inheritance for gene: HSF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v3.1502 HSF4 Arina Puzriakova Phenotypes for gene: HSF4 were changed from Cataract 5, multiple types, 116800 to Cataract 5, multiple types, OMIM:116800
Structural eye disease v1.105 HSF4 Arina Puzriakova Phenotypes for gene: HSF4 were changed from Cataract 5, multiple types, 116800 to Cataract 5, multiple types, OMIM:116800
Fetal anomalies v1.829 HSF4 Arina Puzriakova Phenotypes for gene: HSF4 were changed from CATARACT ZONULAR HSF4-RELATED; CATARACT MARNER TYPE to Cataract 5, multiple types, OMIM:116800
Bilateral congenital or childhood onset cataracts v2.95 HSF4 Arina Puzriakova Phenotypes for gene: HSF4 were changed from Cataracts; Cataract 5, multiple types, 116800; CATARACT ZONULAR HSF4-RELATED; CATARACT MARNER TYPE to Cataract 5, multiple types, OMIM:116800
Intellectual disability v3.1501 NALCN Arina Puzriakova Phenotypes for gene: NALCN were changed from ?Neuroaxonal neurodegeneration, infantile, with facial dysmophism, 615419; CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY to Congenital contractures of the limbs and face, hypotonia, and developmental delay, OMIM:616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, OMIM:615419
Arthrogryposis v3.148 NALCN Arina Puzriakova Phenotypes for gene: NALCN were changed from Congenital contractures of the limbs and face, hypotonia, and developmental delay 616266 to Congenital contractures of the limbs and face, hypotonia, and developmental delay, OMIM:616266
Fetal hydrops v1.47 KLF1 Arina Puzriakova Phenotypes for gene: KLF1 were changed from hydrops fetalis due to congenital dyserythropoietic anemia (CDA); hydrops fetalis-associated anemia to Dyserythropoietic anemia, congenital, type IV, OMIM:613673; Hydrops Fetalis
Fetal anomalies v1.828 KLF1 Arina Puzriakova Phenotypes for gene: KLF1 were changed from ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV; Hydrops Fetalis to Dyserythropoietic anemia, congenital, type IV, OMIM:613673; Hydrops Fetalis
Cytopenias and congenital anaemias v1.100 KLF1 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI was updated from 'Monoallelic' only to 'Both mono- and biallelic, (biallelic more severe)'. The expanded MOI is based on compound heterozygous cases in PMID:24443441; 25724378; 27282573; 28361594; 28369821. Heterozygous carrier parents may display features of beta thalassemia.
Cytopenias and congenital anaemias v1.100 KLF1 Arina Puzriakova Mode of inheritance for gene: KLF1 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
Cytopenias and congenital anaemias v1.99 KLF1 Arina Puzriakova Publications for gene: KLF1 were set to 21055716
Cytopenias and congenital anaemias v1.98 KLF1 Arina Puzriakova Phenotypes for gene: KLF1 were changed from Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type IV, 613673 to Dyserythropoietic anemia, congenital, type IV, OMIM:613673
Cytopenia - NOT Fanconi anaemia v1.55 KLF1 Arina Puzriakova Tag Q1_22_MOI tag was added to gene: KLF1.
Rare anaemia v1.36 KLF1 Arina Puzriakova Tag Q1_22_MOI tag was added to gene: KLF1.
Cytopenia - NOT Fanconi anaemia v1.55 KLF1 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Monoallelic' only to 'Both mono- and biallelic, (biallelic more severe)'.

The expanded MOI is based on compound heterozygous cases in PMID:24443441; 25724378; 27282573; 28361594; 28369821. Heterozygous carrier parents may display features of beta thalassemia.
Cytopenia - NOT Fanconi anaemia v1.55 KLF1 Arina Puzriakova Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cytopenia - NOT Fanconi anaemia v1.54 KLF1 Arina Puzriakova Publications for gene: KLF1 were set to 21055716
Cytopenia - NOT Fanconi anaemia v1.53 KLF1 Arina Puzriakova Phenotypes for gene: KLF1 were changed from Dyserythropoietic anemia, congenital, type IV, 613673; Congenital Dyserythropoietic Anemia to Dyserythropoietic anemia, congenital, type IV, OMIM:613673
Rare anaemia v1.36 KLF1 Arina Puzriakova Phenotypes for gene: KLF1 were changed from Dyserythropoietic anemia, congenital, type IV, 613673; Dyserythropoietic anemia, congenital, type IV; Congenital Dyserythropoietic Anemia; 613673 Congenital Dyserythropoietic Anemia; 613673 Congenital dyserythropoietic anaemia type 4 to Dyserythropoietic anemia, congenital, type IV, OMIM:613673
Rare anaemia v1.35 KLF1 Arina Puzriakova Publications for gene: KLF1 were set to 21055716; 29200155
Rare anaemia v1.34 KLF1 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Monoallelic' only to 'Both mono- and biallelic, (biallelic more severe)'.

The expanded MOI is based on compound heterozygous cases in PMID:24443441; 25724378; 27282573; 28361594; 28369821. Heterozygous carrier parents may display features of beta thalassemia.
Rare anaemia v1.34 KLF1 Arina Puzriakova Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cytopenias and congenital anaemias v1.97 KIT Arina Puzriakova Phenotypes for gene: KIT were changed from Acute myeloid leukaemia (AML) to Leukemia, acute myeloid, somatic, OMIM:601626
Adult solid tumours cancer susceptibility v2.15 KIT Arina Puzriakova Phenotypes for gene: KIT were changed from Gastro-Intestinal Stromal Tumor to Gastrointestinal stromal tumor, familial, OMIM:606764
Sarcoma cancer susceptibility v1.21 KIT Arina Puzriakova Phenotypes for gene: KIT were changed from to Gastrointestinal stromal tumor, familial, OMIM:606764
Adult solid tumours for rare disease v1.26 KIT Arina Puzriakova Phenotypes for gene: KIT were changed from Gastro-Intestinal Stromal Tumor to Gastrointestinal stromal tumor, familial, OMIM:606764
Pigmentary skin disorders v1.40 KIT Arina Puzriakova Tag Q1_22_MOI tag was added to gene: KIT.
Pigmentary skin disorders v1.40 KIT Arina Puzriakova Publications for gene: KIT were set to 9990072; 1370874
Pigmentary skin disorders v1.39 KIT Arina Puzriakova Phenotypes for gene: KIT were changed from PBT; Piebaldism; MASTC, PIEBALD TRAIT; Mast cell disease; MASTOCYTOSIS, CUTANEOUS to Mastocytosis, cutaneous, OMIM:154800; Piebaldism, OMIM:172800
Pigmentary skin disorders v1.38 KIT Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be be updated from 'monoallelic' to 'both mono- and biallelic (but biallelic mutations cause a more SEVERE disease form)' (tagged)

Copied from Ellen McDonagh (Genomics England Curator) review on Hearing loss panel:
PMID: 23399981 - A report of a proband with no pigmentation of his skin nor hair and blue irides, and pro- found sensorineural hearing loss. A homozygous deletion of exons 20 and 21 in the proband was found, and parents were heterozygous for these deletions (homozygosity for piebaldism is clinically more severe than heterozygous state). Also describe other published studies of c-kit mutations in mice, which have defects including albinism and deafness.
Pigmentary skin disorders v1.38 KIT Arina Puzriakova Mode of inheritance for gene: KIT was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare genetic inflammatory skin disorders v1.50 KIT Arina Puzriakova Phenotypes for gene: KIT were changed from MASTOCYTOSIS, CUTANEOUS, OMIM:154800; Piebaldism, OMIM:172800 to Mastocytosis, cutaneous, OMIM:154800
Neonatal diabetes v2.35 KCNJ11 Ivone Leong Tag Q1_22_MOI tag was added to gene: KCNJ11.
Neonatal diabetes v2.35 KCNJ11 Ivone Leong edited their review of gene: KCNJ11: Added comment: MOI should be changed from "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" to "Monoallelic" as neonatal diabetes is associated with monoallelic inheritance. Both monoallelic and biallelic inheritance is associated with familial hyperinsulinemic hypoglycaemia.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Monogenic hearing loss v2.218 ADGRV1 Ivone Leong Tag Q1_22_MOI tag was added to gene: ADGRV1.
Monogenic hearing loss v2.218 ADGRV1 Ivone Leong reviewed gene: ADGRV1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Familial pulmonary fibrosis v1.26 ACD Ivone Leong Tag watchlist tag was added to gene: ACD.
Familial pulmonary fibrosis v1.26 ACD Ivone Leong Publications for gene: ACD were set to 31515401; 30995915
Familial pulmonary fibrosis v1.25 ACD Ivone Leong Classified gene: ACD as Amber List (moderate evidence)
Familial pulmonary fibrosis v1.25 ACD Ivone Leong Added comment: Comment on list classification: New gene added by Øystein Holla (Telemark Hospital Trust). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. After discussion with the Genomics England Clinical Team this gene has been given an Amber rating until more evidence is available due to unaffected heterozygotes reported in PMID: 33446513.
Familial pulmonary fibrosis v1.25 ACD Ivone Leong Gene: acd has been classified as Amber List (Moderate Evidence).