Activity
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10 actions
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| Fetal anomalies v5.78 | MAX |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: MAX. Tag Q1_25_ promote_green was removed from gene: MAX. |
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| Fetal anomalies v5.78 | MAX | Achchuthan Shanmugasundram edited their review of gene: MAX: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.77 | MAX |
Achchuthan Shanmugasundram Source Expert Review Green was added to MAX. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | MAX |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: MAX. Tag Q1_25_ promote_green tag was added to gene: MAX. |
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| Fetal anomalies v5.16 | MAX | Achchuthan Shanmugasundram commented on gene: MAX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | MAX | Sahar Mansour reviewed gene: MAX: Rating: GREEN; Mode of pathogenicity: ; Publications: 38141607; Phenotypes: Polydactyly-macrocephaly syndrome, MIM#620712; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | MAX |
Achchuthan Shanmugasundram gene: MAX was added gene: MAX was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAX were set to 38141607 Phenotypes for gene: MAX were set to Polydactyly-macrocephaly syndrome, OMIM:620712 |
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| Fetal anomalies v1.672 | ZNF3 |
Arina Puzriakova gene: ZNF3 was added gene: ZNF3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ZNF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF3 were set to 32732226 Phenotypes for gene: ZNF3 were set to Hydrocephaly; Facial cleft Review for gene: ZNF3 was set to RED Added comment: Novel candidate gene identified in a fetus with hydrocephaly and facial cleft detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including a median cleft palate, partial maxillar agenesis, bilateral severe microphthalmia, arhinencephaly, partial thalamic fusion. A homozygous truncating variant (c.396A>G/ p.*132Trpext*69) in ZNF3 was found by exome sequencing. Sources: Literature |
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| Fetal anomalies v0.9 | SHH | Rebecca Foulger commented on gene: SHH: DDG2P rating in original PAGE list: Confirmed for TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME, Confirmed for MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5, Confirmed for SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR and Confirmed for HOLOPROSENCEPHALY TYPE 3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | SHH | Rebecca Foulger Added phenotypes SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR for gene: SHH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||