| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.1862 | RELN | Zornitza Stark Marked gene: RELN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1862 | RELN | Zornitza Stark Gene: reln has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1862 | RELN | Zornitza Stark Phenotypes for gene: RELN were changed from LISSENCEPHALY 2 to Lissencephaly 2 (Norman-Roberts type), MIM# 257320 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1861 | RELN | Zornitza Stark Publications for gene: RELN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1849 | RELN | Naomi Baker reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: None; Publications: 10973257, 29671837, 16958033, 31805691; Phenotypes: Lissencephaly 2 (Norman-Roberts type), MIM# 257320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1604 | FLNA | Zornitza Stark Phenotypes for gene: FLNA were changed from PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1; EPILEPTIC ENCEPHALOPATHY; FG SYNDROME TYPE 2; X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION; MELNICK-NEEDLES SYNDROME; FRONTOMETAPHYSEAL DYSPLASIA; OTOPALATODIGITAL SYNDROME TYPE 2; TERMINAL OSSEOUS DYSPLASIA; OTOPALATODIGITAL SYNDROME TYPE 1 to Melnick-Needles syndrome, 309350; Otopalatodigital syndrome, type I 311300; Otopalatodigital syndrome, type II 304120; Terminal osseous dysplasia 300244; Heterotopia, periventricular, 1 MIM# 300049 Cardiac valvular dysplasia, X-linked MIM# 314400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1602 | FLNA |
Zornitza Stark changed review comment from: Melnick-Needles associated with radial shortening in affected women. Male fetuses reported with absent thumbs Sources: Expert list; to: Multiple FLNA-related disorders are relevant to this panel. Melnick-Needles associated with radial shortening in affected women. Male fetuses reported with absent thumbs Sources: Expert list |
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| Fetal anomalies v0.1602 | FLNA | Zornitza Stark edited their review of gene: FLNA: Changed phenotypes: Melnick-Needles syndrome, 309350, Otopalatodigital syndrome, type I 311300, Otopalatodigital syndrome, type II 304120, Terminal osseous dysplasia 300244, Heterotopia, periventricular, 1 MIM# 300049 Cardiac valvular dysplasia, X-linked MIM# 314400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1305 | ELN | Zornitza Stark Marked gene: ELN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1305 | ELN | Zornitza Stark Gene: eln has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1305 | ELN | Zornitza Stark Phenotypes for gene: ELN were changed from ELN-RELATED CUTIS LAXA; SUPRAVALVAR AORTIC STENOSIS to Cutis laxa 123700; Supravalvar aortic stenosis 185500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1304 | ELN | Zornitza Stark Publications for gene: ELN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.771 | ELN | Belinda Chong reviewed gene: ELN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27866049 31560829 19844261 19844261; Phenotypes: Cutis laxa 123700, Supravalvar aortic stenosis 185500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RELN |
Zornitza Stark gene: RELN was added gene: RELN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RELN were set to LISSENCEPHALY 2 |
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| Fetal anomalies v0.0 | FLNA |
Zornitza Stark gene: FLNA was added gene: FLNA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: FLNA were set to 30712878; 28425981 Phenotypes for gene: FLNA were set to PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1; EPILEPTIC ENCEPHALOPATHY; FG SYNDROME TYPE 2; X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION; MELNICK-NEEDLES SYNDROME; FRONTOMETAPHYSEAL DYSPLASIA; OTOPALATODIGITAL SYNDROME TYPE 2; TERMINAL OSSEOUS DYSPLASIA; OTOPALATODIGITAL SYNDROME TYPE 1 |
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| Fetal anomalies v0.0 | ELN |
Zornitza Stark gene: ELN was added gene: ELN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ELN were set to ELN-RELATED CUTIS LAXA; SUPRAVALVAR AORTIC STENOSIS |
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