Activity
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| Fetal anomalies v8.26 | TMEM53 | Ida Ertmanska commented on gene: TMEM53 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.25 | TMEM53 | Sarah Graham reviewed gene: TMEM53: Rating: RED; Mode of pathogenicity: ; Publications: 33824347, 39300972, 40767825, 40680154, 39084544, 39901041; Phenotypes: craniotubular dysplasia, Ikegawa type, MONDO:0859226, Craniotubular dysplasia, Ikegawa type, OMIM:619727; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.23 | TMEM53 |
Ida Ertmanska gene: TMEM53 was added gene: TMEM53 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: TMEM53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM53 were set to 33824347; 39300972; 40767825; 40680154; 39084544; 39901041 Phenotypes for gene: TMEM53 were set to craniotubular dysplasia, Ikegawa type, MONDO:0859226; Craniotubular dysplasia, Ikegawa type, OMIM:619727 |
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