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| Mendeliome v2.278 | CNTD1 |
Rylee Peters changed review comment from: PMID: 42339205 reports a single individual with autosomal recessive diminished ovarian reserve (low AMH, low AFC, infertility) caused by a homozygous splice‑site loss‑of‑function CNTD1 variant; detailed hormonal profiling and a Cntd1 knockout mouse model support the association. PMID: 42221552 reports one individual from a second family with autosomal recessive recurrent good‑quality cleavage‑stage blastulation failure linked to a homozygous missense CNTD1 variant, but functional data is lacking. Sources: Literature; to: PMID: 42339205 reports a single individual with autosomal recessive diminished ovarian reserve (low AMH, low AFC, infertility) caused by a homozygous splice‑site loss‑of‑function CNTD1 variant; detailed hormonal profiling and a Cntd1 knockout mouse model support the association. PMID: 42221552 reports one individual from a second family with autosomal recessive recurrent good‑quality cleavage‑stage blastulation failure linked to a homozygous missense CNTD1 variant, but functional data is absent. Sources: Literature |
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| Mendeliome v2.278 | CNTD1 |
Rylee Peters gene: CNTD1 was added gene: CNTD1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CNTD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNTD1 were set to 42339205; 42221552 Phenotypes for gene: CNTD1 were set to Infertility disorder, MONDO:0005047, CNTD1-related Review for gene: CNTD1 was set to RED Added comment: PMID: 42339205 reports a single individual with autosomal recessive diminished ovarian reserve (low AMH, low AFC, infertility) caused by a homozygous splice‑site loss‑of‑function CNTD1 variant; detailed hormonal profiling and a Cntd1 knockout mouse model support the association. PMID: 42221552 reports one individual from a second family with autosomal recessive recurrent good‑quality cleavage‑stage blastulation failure linked to a homozygous missense CNTD1 variant, but functional data is lacking. Sources: Literature |
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| Mendeliome v2.0 | AMH | Gene migrated from ENSG00000104899 to ENSG00000104899 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4703 | AMH | chirag patel Mode of inheritance for gene: AMH was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4702 | AMH | chirag patel Phenotypes for gene: AMH were changed from Persistent Mullerian duct syndrome, type I (MIM#261550) to Persistent Mullerian duct syndrome, type I (MIM#261550); Hypogonadotropic hypogonadism, MONDO:0018555 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4701 | AMH | chirag patel Publications for gene: AMH were set to 32172781; 31291191 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4701 | AMH | chirag patel Publications for gene: AMH were set to 32172781 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4700 | AMH | chirag patel Mode of inheritance for gene: AMH was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4699 | chirag patel Added reviews for gene AMH from panel Hypogonadotropic hypogonadism | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12516 | AMHR2 | Elena Savva Marked gene: AMHR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12516 | AMHR2 | Elena Savva Gene: amhr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12516 | AMHR2 | Elena Savva Phenotypes for gene: AMHR2 were changed from to Persistent Mullerian duct syndrome, type II MIM#261550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12515 | AMHR2 | Elena Savva Publications for gene: AMHR2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12515 | AMHR2 | Elena Savva Mode of inheritance for gene: AMHR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12514 | AMHR2 | Elena Savva reviewed gene: AMHR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34810374; Phenotypes: Persistent Mullerian duct syndrome, type II MIM#261550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11698 | SAMHD1 | Zornitza Stark Marked gene: SAMHD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11698 | SAMHD1 | Zornitza Stark Gene: samhd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11698 | SAMHD1 | Zornitza Stark Phenotypes for gene: SAMHD1 were changed from to Aicardi-Goutieres syndrome 5, MIM# 612952 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11697 | SAMHD1 | Zornitza Stark Publications for gene: SAMHD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11696 | SAMHD1 | Zornitza Stark Mode of inheritance for gene: SAMHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11659 | SAMHD1 | Samantha Ayres reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19525956, 21102625, 33307271, 20301648; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6526 | AMH | Zornitza Stark Tag founder tag was added to gene: AMH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6522 | AMH | Seb Lunke Marked gene: AMH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6522 | AMH | Seb Lunke Gene: amh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6522 | AMH | Seb Lunke Phenotypes for gene: AMH were changed from to Persistent Mullerian duct syndrome, type I (MIM#261550) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6521 | AMH | Seb Lunke Publications for gene: AMH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6520 | AMH | Seb Lunke Mode of inheritance for gene: AMH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6519 | AMH | Seb Lunke reviewed gene: AMH: Rating: GREEN; Mode of pathogenicity: None; Publications: 32172781; Phenotypes: Persistent Mullerian duct syndrome, type I (MIM#261550); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | SAMHD1 |
Zornitza Stark gene: SAMHD1 was added gene: SAMHD1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SAMHD1 was set to Unknown |
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| Mendeliome v0.0 | AMHR2 |
Zornitza Stark gene: AMHR2 was added gene: AMHR2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AMHR2 was set to Unknown |
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| Mendeliome v0.0 | AMH |
Zornitza Stark gene: AMH was added gene: AMH was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AMH was set to Unknown |
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