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| Fetal anomalies v0.2763 | LMBRD1 | Zornitza Stark Phenotypes for gene: LMBRD1 were changed from METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF to Methylmalonic aciduria and homocystinuria, cblF type, MIM# 277380 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2242 | HCFC1 | Zornitza Stark Phenotypes for gene: HCFC1 were changed from COBALAMIN DISORDER; MENTAL RETARDATION, X-LINKED 3 to Mental retardation, X-linked 3 (methylmalonic acidaemia and homocysteinaemia, cblX type) MIM# 309541 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.766 | ABCD4 | Zornitza Stark Phenotypes for gene: ABCD4 were changed from METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE to Methylmalonic aciduria and homocystinuria, cblJ type, MIM# 614857 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.640 | MMADHC | Zornitza Stark Phenotypes for gene: MMADHC were changed from METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD to Methylmalonic aciduria, cblD type, variant 2 (MIM#277410), Methylmalonic aciduria and homocystinuria, cblD type (MIM#277410), Methylmalonic aciduria, cblD type, variant 2 (MIM#277410) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.632 | MMACHC | Zornitza Stark Phenotypes for gene: MMACHC were changed from METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE to Methylmalonic aciduria and homocystinuria, cblC type, (MIM#277400) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.582 | MMADHC | Daniel Flanagan reviewed gene: MMADHC: Rating: RED; Mode of pathogenicity: None; Publications: 18385497; Phenotypes: Methylmalonic aciduria, cblD type, variant 2 (MIM#277410), Methylmalonic aciduria and homocystinuria, cblD type (MIM#277410), Methylmalonic aciduria, cblD type, variant 2 (MIM#277410); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.582 | MMACHC | Daniel Flanagan reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20631720, 16311595; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type, (MIM#277400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.378 | CBL | Zornitza Stark Marked gene: CBL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.378 | CBL | Zornitza Stark Gene: cbl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.378 | CBL | Zornitza Stark Phenotypes for gene: CBL were changed from NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.377 | CBL | Zornitza Stark Publications for gene: CBL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.376 | CBL | Zornitza Stark Mode of pathogenicity for gene: CBL was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.375 | CBL | Zornitza Stark Mode of inheritance for gene: CBL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.374 | CBL |
Zornitza Stark changed review comment from: Noonan syndrome-like disorder is a developmental disorder characterised by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. Patients with heterozygous germline CBL mutations have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia. Over 20 affected individuals reported.; to: Noonan syndrome-like disorder is a developmental disorder characterised by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. Patients with heterozygous germline CBL mutations have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia. Over 20 affected individuals reported. Can present antenatally with hydrops or congenital heart disease. |
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| Fetal anomalies v0.0 | MTRR |
Zornitza Stark gene: MTRR was added gene: MTRR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTRR were set to HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE |
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| Fetal anomalies v0.0 | MMAB |
Zornitza Stark gene: MMAB was added gene: MMAB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMAB were set to METHYLMALONIC ACIDURIA TYPE CBLB |
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| Fetal anomalies v0.0 | MMAA |
Zornitza Stark gene: MMAA was added gene: MMAA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMAA were set to METHYLMALONIC ACIDURIA TYPE CBLA |
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| Fetal anomalies v0.0 | ABCD4 |
Zornitza Stark gene: ABCD4 was added gene: ABCD4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCD4 were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE |
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| Fetal anomalies v0.0 | MMADHC |
Zornitza Stark gene: MMADHC was added gene: MMADHC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMADHC were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD |
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| Fetal anomalies v0.0 | MMACHC |
Zornitza Stark gene: MMACHC was added gene: MMACHC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMACHC were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE |
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| Fetal anomalies v0.0 | LMBRD1 |
Zornitza Stark gene: LMBRD1 was added gene: LMBRD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LMBRD1 were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF |
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| Fetal anomalies v0.0 | CBL |
Zornitza Stark gene: CBL was added gene: CBL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CBL were set to NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA |
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