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Severe Paediatric Disorders v1.159 ETFB Sarah Leigh Publications for gene: ETFB were set to 30847515; 11980892; 25778941; 24360804; 27021474; 28489334; 30089828; 36495139
Severe Paediatric Disorders v1.158 ETFB Sarah Leigh Publications for gene: ETFB were set to 30847515
Severe Paediatric Disorders v1.157 ETFB Sarah Leigh Publications for gene: ETFB were set to 30847515
Severe Paediatric Disorders v1.156 ETFB Sarah Leigh Phenotypes for gene: ETFB were changed from Glutaric acidemia IIB, 231680 to Glutaric acidemia IIB, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Severe Paediatric Disorders v1.155 ETFA Sarah Leigh Phenotypes for gene: ETFA were changed from Glutaric acidemia IIA, 231680 to Glutaric acidemia IIA, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Severe Paediatric Disorders v1.76 MTFMT Sarah Leigh Phenotypes for gene: MTFMT were changed from Mitochondrial complex I deficiency, nuclear type 27, 618248; Combined oxidative phosphorylation deficiency 15, 614947 to Combined oxidative phosphorylation deficiency 15 OMIM:614947; combined oxidative phosphorylation defect type 15 MONDO:0013987; Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248; mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631
Severe Paediatric Disorders v0.17 LZTFL1 Louise Daugherty Mode of inheritance for gene LZTFL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GTF2H5 Louise Daugherty Mode of inheritance for gene GTF2H5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ETFDH Louise Daugherty Mode of inheritance for gene ETFDH was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ETFB Louise Daugherty Mode of inheritance for gene ETFB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ETFA Louise Daugherty Mode of inheritance for gene ETFA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BPTF Louise Daugherty Mode of inheritance for gene BPTF was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.14 MITF Louise Daugherty Mode of inheritance for gene: MITF was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 UBTF Louise Daugherty reviewed gene: UBTF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TFR2 Louise Daugherty reviewed gene: TFR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TFG Louise Daugherty reviewed gene: TFG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TFAP2B Louise Daugherty reviewed gene: TFAP2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TFAP2A Louise Daugherty reviewed gene: TFAP2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TF Louise Daugherty reviewed gene: TF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 PTF1A Louise Daugherty reviewed gene: PTF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MTFMT Louise Daugherty reviewed gene: MTFMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MT-TF Louise Daugherty reviewed gene: MT-TF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MITF Louise Daugherty reviewed gene: MITF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LZTFL1 Louise Daugherty reviewed gene: LZTFL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GTF2H5 Louise Daugherty reviewed gene: GTF2H5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ETFDH Louise Daugherty reviewed gene: ETFDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ETFB Louise Daugherty reviewed gene: ETFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ETFA Louise Daugherty reviewed gene: ETFA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BPTF Louise Daugherty reviewed gene: BPTF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 UBTF Louise Daugherty Publications for gene UBTF were updated from to 30847515
Severe Paediatric Disorders v0.11 TFR2 Louise Daugherty Publications for gene TFR2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TFG Louise Daugherty Publications for gene TFG were updated from to 30847515
Severe Paediatric Disorders v0.11 TFAP2B Louise Daugherty Publications for gene TFAP2B were updated from to 30847515
Severe Paediatric Disorders v0.11 TFAP2A Louise Daugherty Publications for gene TFAP2A were updated from to 30847515
Severe Paediatric Disorders v0.11 TF Louise Daugherty Publications for gene TF were updated from to 30847515
Severe Paediatric Disorders v0.11 PTF1A Louise Daugherty Publications for gene PTF1A were updated from to 30847515
Severe Paediatric Disorders v0.11 MTFMT Louise Daugherty Publications for gene MTFMT were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-TF Louise Daugherty Publications for gene MT-TF were updated from to 30847515
Severe Paediatric Disorders v0.11 MITF Louise Daugherty Publications for gene MITF were updated from to 30847515
Severe Paediatric Disorders v0.11 LZTFL1 Louise Daugherty Publications for gene LZTFL1 were updated from to 30847515
Severe Paediatric Disorders v0.11 GTF2H5 Louise Daugherty Publications for gene GTF2H5 were updated from to 30847515
Severe Paediatric Disorders v0.11 ETFDH Louise Daugherty Publications for gene ETFDH were updated from to 30847515
Severe Paediatric Disorders v0.11 ETFB Louise Daugherty Publications for gene ETFB were updated from to 30847515
Severe Paediatric Disorders v0.11 ETFA Louise Daugherty Publications for gene ETFA were updated from to 30847515
Severe Paediatric Disorders v0.11 BPTF Louise Daugherty Publications for gene BPTF were updated from to 30847515
Severe Paediatric Disorders v0.11 PTF1A Louise Daugherty Mode of inheritance for gene PTF1A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MTFMT Louise Daugherty Mode of inheritance for gene MTFMT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.10 UBTF Louise Daugherty Added phenotypes Neurodegeneration, childhood-onset, with brain atrophy, 617672 for gene: UBTF
Severe Paediatric Disorders v0.10 TFR2 Louise Daugherty Added phenotypes Hemochromatosis, type 3, 604250 for gene: TFR2
Severe Paediatric Disorders v0.10 TFG Louise Daugherty Added phenotypes Hereditary motor and sensory neuropathy, Okinawa type, 604484; ?Spastic paraplegia 57, autosomal recessive, 615658 for gene: TFG
Severe Paediatric Disorders v0.10 TFAP2B Louise Daugherty Added phenotypes Patent ductus arteriosus 2, 617035; Char syndrome, 169100 for gene: TFAP2B
Severe Paediatric Disorders v0.10 TFAP2A Louise Daugherty Added phenotypes Branchiooculofacial syndrome, 113620 for gene: TFAP2A
Severe Paediatric Disorders v0.10 TF Louise Daugherty Added phenotypes Atransferrinemia, 209300 for gene: TF
Severe Paediatric Disorders v0.10 PTF1A Louise Daugherty Added phenotypes Pancreatic agenesis 2, 615935; Pancreatic and cerebellar agenesis, 609069 for gene: PTF1A
Severe Paediatric Disorders v0.10 MTFMT Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 27, 618248; Combined oxidative phosphorylation deficiency 15, 614947 for gene: MTFMT
Severe Paediatric Disorders v0.10 MT-TF Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL, LATE-ONSET; EPILEPSY, MITOCHONDRIAL; NEPHROPATHY, TUBULOINTERSTITIAL; ENCEPHALOPATHY, MITOCHONDRIAL; MELAS SYNDROME; MERRF SYNDROME for gene: MT-TF
Severe Paediatric Disorders v0.10 MITF Louise Daugherty Added phenotypes Waardenburg syndrome/ocular albinism, digenic, 103470; Tietz albinism-deafness syndrome, 103500; COMMAD syndrome, 617306; Waardenburg syndrome, type 2A, 193510 for gene: MITF
Severe Paediatric Disorders v0.10 LZTFL1 Louise Daugherty Added phenotypes Bardet-Biedl syndrome 17, 615994 for gene: LZTFL1
Severe Paediatric Disorders v0.10 GTF2H5 Louise Daugherty Added phenotypes Trichothiodystrophy 3, photosensitive, 616395 for gene: GTF2H5
Severe Paediatric Disorders v0.10 ETFDH Louise Daugherty Added phenotypes Glutaric acidemia IIC, 231680 for gene: ETFDH
Severe Paediatric Disorders v0.10 ETFB Louise Daugherty Added phenotypes Glutaric acidemia IIB, 231680 for gene: ETFB
Severe Paediatric Disorders v0.10 ETFA Louise Daugherty Added phenotypes Glutaric acidemia IIA, 231680 for gene: ETFA
Severe Paediatric Disorders v0.10 BPTF Louise Daugherty Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 for gene: BPTF
Severe Paediatric Disorders v0.9 UBTF Louise Daugherty Added phenotypes Neurodegeneration, childhood-onset, with brain atrophy, 617672 for gene: UBTF
Severe Paediatric Disorders v0.9 TFR2 Louise Daugherty Added phenotypes Hemochromatosis, type 3, 604250 for gene: TFR2
Severe Paediatric Disorders v0.9 TFG Louise Daugherty Added phenotypes Hereditary motor and sensory neuropathy, Okinawa type, 604484; ?Spastic paraplegia 57, autosomal recessive, 615658 for gene: TFG
Severe Paediatric Disorders v0.9 TFAP2B Louise Daugherty Added phenotypes Patent ductus arteriosus 2, 617035; Char syndrome, 169100 for gene: TFAP2B
Severe Paediatric Disorders v0.9 TFAP2A Louise Daugherty Added phenotypes Branchiooculofacial syndrome, 113620 for gene: TFAP2A
Severe Paediatric Disorders v0.9 TF Louise Daugherty Added phenotypes Atransferrinemia, 209300 for gene: TF
Severe Paediatric Disorders v0.9 PTF1A Louise Daugherty Added phenotypes Pancreatic agenesis 2, 615935; Pancreatic and cerebellar agenesis, 609069 for gene: PTF1A
Severe Paediatric Disorders v0.9 MTFMT Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 27, 618248; Combined oxidative phosphorylation deficiency 15, 614947 for gene: MTFMT
Severe Paediatric Disorders v0.9 MT-TF Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL, LATE-ONSET; EPILEPSY, MITOCHONDRIAL; NEPHROPATHY, TUBULOINTERSTITIAL; ENCEPHALOPATHY, MITOCHONDRIAL; MELAS SYNDROME; MERRF SYNDROME for gene: MT-TF
Severe Paediatric Disorders v0.9 MITF Louise Daugherty Added phenotypes Waardenburg syndrome/ocular albinism, digenic, 103470; Tietz albinism-deafness syndrome, 103500; COMMAD syndrome, 617306; Waardenburg syndrome, type 2A, 193510 for gene: MITF
Severe Paediatric Disorders v0.9 LZTFL1 Louise Daugherty Added phenotypes Bardet-Biedl syndrome 17, 615994 for gene: LZTFL1
Severe Paediatric Disorders v0.9 GTF2H5 Louise Daugherty Added phenotypes Trichothiodystrophy 3, photosensitive, 616395 for gene: GTF2H5
Severe Paediatric Disorders v0.9 ETFDH Louise Daugherty Added phenotypes Glutaric acidemia IIC, 231680 for gene: ETFDH
Severe Paediatric Disorders v0.9 ETFB Louise Daugherty Added phenotypes Glutaric acidemia IIB, 231680 for gene: ETFB
Severe Paediatric Disorders v0.9 ETFA Louise Daugherty Added phenotypes Glutaric acidemia IIA, 231680 for gene: ETFA
Severe Paediatric Disorders v0.9 BPTF Louise Daugherty Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 for gene: BPTF
Severe Paediatric Disorders v0.9 UBTF Louise Daugherty Added phenotypes Neurodegeneration, childhood-onset, with brain atrophy, 617672 for gene: UBTF
Severe Paediatric Disorders v0.9 TFR2 Louise Daugherty Added phenotypes Hemochromatosis, type 3, 604250 for gene: TFR2
Severe Paediatric Disorders v0.9 TFG Louise Daugherty Added phenotypes Hereditary motor and sensory neuropathy, Okinawa type, 604484; ?Spastic paraplegia 57, autosomal recessive, 615658 for gene: TFG
Severe Paediatric Disorders v0.9 TFAP2B Louise Daugherty Added phenotypes Patent ductus arteriosus 2, 617035; Char syndrome, 169100 for gene: TFAP2B
Severe Paediatric Disorders v0.9 TFAP2A Louise Daugherty Added phenotypes Branchiooculofacial syndrome, 113620 for gene: TFAP2A
Severe Paediatric Disorders v0.9 TF Louise Daugherty Added phenotypes Atransferrinemia, 209300 for gene: TF
Severe Paediatric Disorders v0.9 PTF1A Louise Daugherty Added phenotypes Pancreatic agenesis 2, 615935; Pancreatic and cerebellar agenesis, 609069 for gene: PTF1A
Severe Paediatric Disorders v0.9 MTFMT Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 27, 618248; Combined oxidative phosphorylation deficiency 15, 614947 for gene: MTFMT
Severe Paediatric Disorders v0.9 MT-TF Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL, LATE-ONSET; EPILEPSY, MITOCHONDRIAL; NEPHROPATHY, TUBULOINTERSTITIAL; ENCEPHALOPATHY, MITOCHONDRIAL; MELAS SYNDROME; MERRF SYNDROME for gene: MT-TF
Severe Paediatric Disorders v0.9 MITF Louise Daugherty Added phenotypes Waardenburg syndrome/ocular albinism, digenic, 103470; Tietz albinism-deafness syndrome, 103500; COMMAD syndrome, 617306; Waardenburg syndrome, type 2A, 193510 for gene: MITF
Severe Paediatric Disorders v0.9 LZTFL1 Louise Daugherty Added phenotypes Bardet-Biedl syndrome 17, 615994 for gene: LZTFL1
Severe Paediatric Disorders v0.9 GTF2H5 Louise Daugherty Added phenotypes Trichothiodystrophy 3, photosensitive, 616395 for gene: GTF2H5
Severe Paediatric Disorders v0.9 ETFDH Louise Daugherty Added phenotypes Glutaric acidemia IIC, 231680 for gene: ETFDH
Severe Paediatric Disorders v0.9 ETFB Louise Daugherty Added phenotypes Glutaric acidemia IIB, 231680 for gene: ETFB
Severe Paediatric Disorders v0.9 ETFA Louise Daugherty Added phenotypes Glutaric acidemia IIA, 231680 for gene: ETFA
Severe Paediatric Disorders v0.9 BPTF Louise Daugherty Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 for gene: BPTF
Severe Paediatric Disorders v0.8 UBTF Louise Daugherty Added phenotypes Neurodegeneration, childhood-onset, with brain atrophy, 617672 for gene: UBTF
Severe Paediatric Disorders v0.8 TFR2 Louise Daugherty Added phenotypes Hemochromatosis, type 3, 604250 for gene: TFR2
Severe Paediatric Disorders v0.8 TFG Louise Daugherty Added phenotypes ?Spastic paraplegia 57, autosomal recessive, 615658; Hereditary motor and sensory neuropathy, Okinawa type, 604484 for gene: TFG
Severe Paediatric Disorders v0.8 TFAP2B Louise Daugherty Added phenotypes Char syndrome, 169100; Patent ductus arteriosus 2, 617035 for gene: TFAP2B
Severe Paediatric Disorders v0.8 TFAP2A Louise Daugherty Added phenotypes Branchiooculofacial syndrome, 113620 for gene: TFAP2A
Severe Paediatric Disorders v0.8 TF Louise Daugherty Added phenotypes Atransferrinemia, 209300 for gene: TF
Severe Paediatric Disorders v0.8 PTF1A Louise Daugherty Added phenotypes Pancreatic and cerebellar agenesis, 609069; Pancreatic agenesis 2, 615935 for gene: PTF1A
Severe Paediatric Disorders v0.8 MTFMT Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 27, 618248; Combined oxidative phosphorylation deficiency 15, 614947 for gene: MTFMT
Severe Paediatric Disorders v0.8 MT-TF Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL, LATE-ONSET; NEPHROPATHY, TUBULOINTERSTITIAL; MELAS SYNDROME; MERRF SYNDROME; EPILEPSY, MITOCHONDRIAL; ENCEPHALOPATHY, MITOCHONDRIAL for gene: MT-TF
Severe Paediatric Disorders v0.8 MITF Louise Daugherty Added phenotypes Waardenburg syndrome, type 2A, 193510; Tietz albinism-deafness syndrome, 103500; Waardenburg syndrome/ocular albinism, digenic, 103470; COMMAD syndrome, 617306 for gene: MITF
Severe Paediatric Disorders v0.8 LZTFL1 Louise Daugherty Added phenotypes Bardet-Biedl syndrome 17, 615994 for gene: LZTFL1
Severe Paediatric Disorders v0.8 GTF2H5 Louise Daugherty Added phenotypes Trichothiodystrophy 3, photosensitive, 616395 for gene: GTF2H5
Severe Paediatric Disorders v0.8 ETFDH Louise Daugherty Added phenotypes Glutaric acidemia IIC, 231680 for gene: ETFDH
Severe Paediatric Disorders v0.8 ETFB Louise Daugherty Added phenotypes Glutaric acidemia IIB, 231680 for gene: ETFB
Severe Paediatric Disorders v0.8 ETFA Louise Daugherty Added phenotypes Glutaric acidemia IIA, 231680 for gene: ETFA
Severe Paediatric Disorders v0.8 BPTF Louise Daugherty Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 for gene: BPTF
Severe Paediatric Disorders v0.8 UBTF Louise Daugherty Mode of inheritance for gene UBTF was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Neurodegeneration, childhood-onset, with brain atrophy, 617672 for gene: UBTF
Severe Paediatric Disorders v0.8 TFR2 Louise Daugherty Mode of inheritance for gene TFR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hemochromatosis, type 3, 604250 for gene: TFR2
Severe Paediatric Disorders v0.8 TFG Louise Daugherty Mode of inheritance for gene TFG was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Hereditary motor and sensory neuropathy, Okinawa type, 604484; ?Spastic paraplegia 57, autosomal recessive, 615658 for gene: TFG
Severe Paediatric Disorders v0.8 TFAP2B Louise Daugherty Mode of inheritance for gene TFAP2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Patent ductus arteriosus 2, 617035; Char syndrome, 169100 for gene: TFAP2B
Severe Paediatric Disorders v0.8 TFAP2A Louise Daugherty Mode of inheritance for gene TFAP2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Branchiooculofacial syndrome, 113620 for gene: TFAP2A
Severe Paediatric Disorders v0.8 TF Louise Daugherty Mode of inheritance for gene TF was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Atransferrinemia, 209300 for gene: TF
Severe Paediatric Disorders v0.7 UBTF Louise Daugherty Source Next Generation Children Project was added to UBTF.
Severe Paediatric Disorders v0.7 TFR2 Louise Daugherty Source Next Generation Children Project was added to TFR2.
Severe Paediatric Disorders v0.7 TFG Louise Daugherty Source Next Generation Children Project was added to TFG.
Severe Paediatric Disorders v0.7 TFAP2B Louise Daugherty Source Next Generation Children Project was added to TFAP2B.
Severe Paediatric Disorders v0.7 TFAP2A Louise Daugherty Source Next Generation Children Project was added to TFAP2A.
Severe Paediatric Disorders v0.7 TF Louise Daugherty Source Next Generation Children Project was added to TF.
Severe Paediatric Disorders v0.7 PTF1A Louise Daugherty Source Next Generation Children Project was added to PTF1A.
Severe Paediatric Disorders v0.7 MTFMT Louise Daugherty Source Next Generation Children Project was added to MTFMT.
Severe Paediatric Disorders v0.7 MT-TF Louise Daugherty Source Next Generation Children Project was added to MT-TF.
Severe Paediatric Disorders v0.7 MITF Louise Daugherty Source Next Generation Children Project was added to MITF.
Severe Paediatric Disorders v0.7 LZTFL1 Louise Daugherty Source Next Generation Children Project was added to LZTFL1.
Severe Paediatric Disorders v0.7 GTF2H5 Louise Daugherty Source Next Generation Children Project was added to GTF2H5.
Severe Paediatric Disorders v0.7 ETFDH Louise Daugherty Source Next Generation Children Project was added to ETFDH.
Severe Paediatric Disorders v0.7 ETFB Louise Daugherty Source Next Generation Children Project was added to ETFB.
Severe Paediatric Disorders v0.7 ETFA Louise Daugherty Source Next Generation Children Project was added to ETFA.
Severe Paediatric Disorders v0.7 BPTF Louise Daugherty Source Next Generation Children Project was added to BPTF.
Severe Paediatric Disorders v0.5 UBTF Louise Daugherty Source Expert Review Green was added to UBTF.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TFR2 Louise Daugherty Source Expert Review Green was added to TFR2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TFG Louise Daugherty Source Expert Review Green was added to TFG.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TFAP2B Louise Daugherty Source Expert Review Green was added to TFAP2B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TFAP2A Louise Daugherty Source Expert Review Green was added to TFAP2A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TF Louise Daugherty Source Expert Review Green was added to TF.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 PTF1A Louise Daugherty Source Expert Review Green was added to PTF1A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 MTFMT Louise Daugherty Source Expert Review Green was added to MTFMT.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 MT-TF Louise Daugherty Source Expert Review Green was added to MT-TF.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 MITF Louise Daugherty Source Expert Review Green was added to MITF.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 LZTFL1 Louise Daugherty Source Expert Review Green was added to LZTFL1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 GTF2H5 Louise Daugherty Source Expert Review Green was added to GTF2H5.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ETFDH Louise Daugherty Source Expert Review Green was added to ETFDH.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ETFB Louise Daugherty Source Expert Review Green was added to ETFB.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ETFA Louise Daugherty Source Expert Review Green was added to ETFA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 BPTF Louise Daugherty Source Expert Review Green was added to BPTF.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 UBTF Louise Daugherty gene: UBTF was added
gene: UBTF was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: UBTF was set to
Severe Paediatric Disorders v0.4 TFR2 Louise Daugherty gene: TFR2 was added
gene: TFR2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TFR2 was set to
Severe Paediatric Disorders v0.4 TFG Louise Daugherty gene: TFG was added
gene: TFG was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TFG was set to
Severe Paediatric Disorders v0.4 TFAP2B Louise Daugherty gene: TFAP2B was added
gene: TFAP2B was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TFAP2B was set to
Severe Paediatric Disorders v0.4 TFAP2A Louise Daugherty gene: TFAP2A was added
gene: TFAP2A was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TFAP2A was set to
Severe Paediatric Disorders v0.4 TF Louise Daugherty gene: TF was added
gene: TF was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TF was set to
Severe Paediatric Disorders v0.4 PTF1A Louise Daugherty gene: PTF1A was added
gene: PTF1A was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: PTF1A was set to
Severe Paediatric Disorders v0.4 MTFMT Louise Daugherty gene: MTFMT was added
gene: MTFMT was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: MTFMT was set to
Severe Paediatric Disorders v0.4 MT-TF Louise Daugherty gene: MT-TF was added
gene: MT-TF was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene gene: MT-TF was set to MITOCHONDRIAL
Severe Paediatric Disorders v0.4 MITF Louise Daugherty gene: MITF was added
gene: MITF was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: MITF was set to
Severe Paediatric Disorders v0.4 LZTFL1 Louise Daugherty gene: LZTFL1 was added
gene: LZTFL1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: LZTFL1 was set to
Severe Paediatric Disorders v0.4 GTF2H5 Louise Daugherty gene: GTF2H5 was added
gene: GTF2H5 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: GTF2H5 was set to
Severe Paediatric Disorders v0.4 ETFDH Louise Daugherty gene: ETFDH was added
gene: ETFDH was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ETFDH was set to
Severe Paediatric Disorders v0.4 ETFB Louise Daugherty gene: ETFB was added
gene: ETFB was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ETFB was set to
Severe Paediatric Disorders v0.4 ETFA Louise Daugherty gene: ETFA was added
gene: ETFA was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ETFA was set to
Severe Paediatric Disorders v0.4 BPTF Louise Daugherty gene: BPTF was added
gene: BPTF was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: BPTF was set to