| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Differences in sex development v1.32 | AMHR2 | Ivone Leong edited their review of gene: AMHR2: Added comment: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v1.32 | AMH | Ivone Leong edited their review of gene: AMH: Added comment: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v1.31 | AMHR2 | Ivone Leong Classified gene: AMHR2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v1.31 | AMHR2 | Ivone Leong Added comment: Comment on list classification: Promoted from red to green as recommended by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust). There are >3 unrelated cases of patients with variants in AMHR2 who have Persistent Mullerian duct syndrome, type II (PMID: 28528332). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v1.31 | AMHR2 | Ivone Leong Gene: amhr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v1.30 | AMH | Ivone Leong Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v1.30 | AMH | Ivone Leong Classified gene: AMH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v1.30 | AMH | Ivone Leong Added comment: Comment on list classification: Promoted from red to green as recommended by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust). There are >3 unrelated cases of patients with variants in AMH who have Persistent Mullerian duct syndrome, type I (PMID: 28528332). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v1.30 | AMH | Ivone Leong Gene: amh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v1.29 | AMH | Ivone Leong Classified gene: AMH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v1.29 | AMH | Ivone Leong Added comment: Comment on list classification: Promoted from red to green as recommended by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust). There are >3 unrelated cases of patients with variants in AMH who have Persistent Mullerian duct syndrome, type I (PMID: 28528332). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v1.29 | AMH | Ivone Leong Gene: amh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v1.28 | AMHR2 | Martina Owens reviewed gene: AMHR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28528332; Phenotypes: Persistent Mullerian duct syndrome, type II, 261550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v1.28 | AMH | Martina Owens reviewed gene: AMH: Rating: GREEN; Mode of pathogenicity: ; Publications: 28528332; Phenotypes: Persistent Mullerian duct syndrome, type I, 261550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v1.27 | AMHR2 |
Ivone Leong gene: AMHR2 was added gene: AMHR2 was added to Disorders of sex development. Sources: NHS GMS Mode of inheritance for gene: AMHR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMHR2 were set to 28528332 Phenotypes for gene: AMHR2 were set to Persistent Mullerian duct syndrome, type II, 261550 |
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| Differences in sex development v1.27 | AMH |
Ivone Leong gene: AMH was added gene: AMH was added to Disorders of sex development. Sources: NHS GMS Mode of inheritance for gene: AMH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMH were set to 28528332 Phenotypes for gene: AMH were set to Persistent Mullerian duct syndrome, type I, 261550 |
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