| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Fetal anomalies v0.4679 | ALB | Alison Yeung Phenotypes for gene: ALB were changed from Analbuminemia- MIM#616000 to Analbuminemia, MIM#616000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4550 | POMT1 | Zornitza Stark Phenotypes for gene: POMT1 were changed from MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C1; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B1; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Walker-Walburg syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3990 | ALB | Zornitza Stark Marked gene: ALB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3990 | ALB | Zornitza Stark Gene: alb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3990 | ALB | Zornitza Stark Classified gene: ALB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3990 | ALB | Zornitza Stark Gene: alb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3915 | ALB |
Krithika Murali gene: ALB was added gene: ALB was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ALB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALB were set to 23730173; 15300429; 31057599 Phenotypes for gene: ALB were set to Analbuminemia- MIM#616000 Review for gene: ALB was set to GREEN Added comment: Biallelic variants associated with congenital analbuminaemia. Prenatal features include IUGR and oligohydramnios. Allelic condition OMIM# 615999 Mono-allelic disease and dysalbuminemic hyperthyroxinemia: gain-of-function mechanism, missense variants of ALB with increased affinity for thyroid hormones. Immunoassay methods may show variably elevated free thyroid hormone levels. Individuals are euthyroid and identification is important to avoid unnecessary medical or surgical treatment. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3380 | MITF | Zornitza Stark Phenotypes for gene: MITF were changed from Tietz albinism-deafness syndrome, 103500; Waardenburg syndrome/ocular albinism, digenic, 103470; TIETZ SYNDROME; Waardenburg syndrome, type 2A, 193510; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2A; COMMAD syndrome, 617306; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM to COMMAD syndrome, MIM# 617306 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2677 | PALB2 | Zornitza Stark Marked gene: PALB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2677 | PALB2 | Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2677 | PALB2 | Zornitza Stark Phenotypes for gene: PALB2 were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP N to Fanconi anaemia, complementation group N, MIM# 610832 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1929 | GNAS | Zornitza Stark Phenotypes for gene: GNAS were changed from ALBRIGHT HEREDITARY OSTEODYSTROPHY; GNAS HYPERFUNCTION; PSEUDOHYPOPARATHYROIDISM TYPE 1B; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA to Pseudohypoparathyroidism Ia, MIM# 103580 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1626 | APTX | Zornitza Stark Phenotypes for gene: APTX were changed from ATAXIA WITH OCULOMOTOR APRAXIA 1 to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia, MIM#208920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1625 | APTX | Zornitza Stark edited their review of gene: APTX: Changed phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia, MIM#208920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TYRP1 |
Zornitza Stark gene: TYRP1 was added gene: TYRP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYRP1 were set to OCULOCUTANEOUS ALBINISM TYPE 3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TYR |
Zornitza Stark gene: TYR was added gene: TYR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYR were set to OCULOCUTANEOUS ALBINISM TYPE 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MITF |
Zornitza Stark gene: MITF was added gene: MITF was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MITF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MITF were set to 27889061 Phenotypes for gene: MITF were set to Tietz albinism-deafness syndrome, 103500; Waardenburg syndrome/ocular albinism, digenic, 103470; TIETZ SYNDROME; Waardenburg syndrome, type 2A, 193510; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2A; COMMAD syndrome, 617306; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PALB2 |
Zornitza Stark gene: PALB2 was added gene: PALB2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PALB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PALB2 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP N |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GNAS |
Zornitza Stark gene: GNAS was added gene: GNAS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNAS were set to ALBRIGHT HEREDITARY OSTEODYSTROPHY; GNAS HYPERFUNCTION; PSEUDOHYPOPARATHYROIDISM TYPE 1B; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||