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| Infertility and Recurrent Pregnancy Loss v2.24 | AGTPBP1 | Zornitza Stark Marked gene: AGTPBP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v2.24 | AGTPBP1 | Zornitza Stark Gene: agtpbp1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v2.24 | AGTPBP1 | Zornitza Stark Phenotypes for gene: AGTPBP1 were changed from Neurodegeneration, childhood-onset, with cerebellar atrophy, MONDO:0032650 to Infertility disorder, MONDO:0005047, AGTPBP1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v2.23 | AGTPBP1 | Zornitza Stark Publications for gene: AGTPBP1 were set to 42358771; 41160201; 38587696; 38153683; 37937809; 34324503; 33909173; 33624935; 31102495; 30976113; 30237576 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v2.22 | AGTPBP1 | Zornitza Stark Mode of inheritance for gene: AGTPBP1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v2.21 | AGTPBP1 | Zornitza Stark Classified gene: AGTPBP1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v2.21 | AGTPBP1 | Zornitza Stark Gene: agtpbp1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v2.20 | AGTPBP1 | Zornitza Stark edited their review of gene: AGTPBP1: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v2.20 | AGTPBP1 |
Zornitza Stark changed review comment from: Newly reported association with teratozoospermia (monoallelic): the heterozygous p.Arg811His missense variant is identified in two unrelated families (PMID 41160201, PMID 37937809). A CRISPR‑engineered mouse knock‑in recapitulates the sperm head‑ and tail‑defect phenotype, providing variant‑specific functional evidence. RED for the mono-allelic association as it appears confined to this single missense variant, further reports needed.; to: The heterozygous p.Arg811His missense variant is identified in two unrelated families (PMID 41160201, PMID 37937809). A CRISPR‑engineered mouse knock‑in recapitulates the sperm head‑ and tail‑defect phenotype, providing variant‑specific functional evidence. RED for this association as it appears confined to this single missense variant, further reports needed. |
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| Infertility and Recurrent Pregnancy Loss v2.20 | AGTPBP1 | Zornitza Stark Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v2.20 | AGTPBP1 | Zornitza Stark edited their review of gene: AGTPBP1: Changed publications: 41160201, 37937809; Changed phenotypes: Infertility disorder, MONDO:0005047, AGTPBP1-related; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v2.20 | Zornitza Stark Copied gene AGTPBP1 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v2.20 | AGTPBP1 |
Zornitza Stark gene: AGTPBP1 was added gene: AGTPBP1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGTPBP1 were set to 42358771; 41160201; 38587696; 38153683; 37937809; 34324503; 33909173; 33624935; 31102495; 30976113; 30237576 Phenotypes for gene: AGTPBP1 were set to Neurodegeneration, childhood-onset, with cerebellar atrophy, MONDO:0032650 |
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