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| Mendeliome v1.4865 | SOX9 upstream regulatory region gain | Sarah Milton Classified Region: SOX9 upstream regulatory region gain as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4865 | SOX9 upstream regulatory region gain | Sarah Milton Region: sox9 upstream regulatory region gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4800 | SOX9 upstream regulatory region gain |
Sarah Milton changed review comment from: The upstream regulatory region of SOX9 has been demonstrated to have key roles in transcription factor binding including binding of SRY. Increased dosage of this agenic region has been demonstrated in a number of individuals to result in 46XX sex reversal with a varying phenotype from DSD to phenotypic male. The coordinates used in this entry are the minimal critical region however reported duplications range from 3.7kb to 780kb. Incomplete penetrance has been observed. Supportive functional studies in the form of mouse models and luciferase reporter assays have been published. Note: Duplications of this region in 46,XY individuals don't result in a phenotype. Refer to ISCA-46303 loss entry. Sources: Literature; to: The upstream regulatory region of SOX9 has been demonstrated to have key roles in transcription factor binding including binding of SRY. Increased dosage of this agenic region has been demonstrated in a number of individuals to result in 46XX sex reversal with a varying phenotype from DSD to phenotypic male. The coordinates used in this entry are the minimal critical region affecting XYSR enhancer however reported duplications range from 3.7kb to 780kb. Incomplete penetrance has been observed. Supportive functional studies in the form of mouse models and luciferase reporter assays have been published. Note: Duplications of this region in 46,XY individuals don't result in a phenotype. Refer to ISCA-46303 loss entry. Sources: Literature |
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| Mendeliome v1.4800 | SOX9 upstream regulatory region gain |
Sarah Milton Region: SOX9 upstream regulatory region gain was added Region: SOX9 upstream regulatory region gain was added to Mendeliome. Sources: Literature regulatory region tags were added to Region: SOX9 upstream regulatory region gain. Mode of inheritance for Region: SOX9 upstream regulatory region gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: SOX9 upstream regulatory region gain were set to PMID: 37551848; 30552336; 31661700 Phenotypes for Region: SOX9 upstream regulatory region gain were set to 46XX sex reversal 2, MIM#278850 Penetrance for Region: SOX9 upstream regulatory region gain were set to Incomplete Review for Region: SOX9 upstream regulatory region gain was set to GREEN Added comment: The upstream regulatory region of SOX9 has been demonstrated to have key roles in transcription factor binding including binding of SRY. Increased dosage of this agenic region has been demonstrated in a number of individuals to result in 46XX sex reversal with a varying phenotype from DSD to phenotypic male. The coordinates used in this entry are the minimal critical region however reported duplications range from 3.7kb to 780kb. Incomplete penetrance has been observed. Supportive functional studies in the form of mouse models and luciferase reporter assays have been published. Note: Duplications of this region in 46,XY individuals don't result in a phenotype. Refer to ISCA-46303 loss entry. Sources: Literature |
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| Mendeliome v1.3050 | NXT2 |
Rylee Peters gene: NXT2 was added gene: NXT2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NXT2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NXT2 were set to PMID: 40624043; 35013161 Phenotypes for gene: NXT2 were set to Spermatogenic failure, MONDO:0004983, NXT2-related Review for gene: NXT2 was set to AMBER Added comment: PMID: 40624043 - 1x hemi male with maternally inherited p.(Asp119*) – (p.Asp64* in MANE transcript) – absent from v4. Variant also present in two infertile brothers with azoospermia; absent in fertile father and brother. Over expression of the variant in HEK293T cells resulted in the complete absence of the truncated protein according to Western blot analysis. - 1x hemi male with p.(Ala90Ser) – (p.Ala35Ser in MANE transcript) – 85 hets, 42 hemis in v4. Variant is located near the start of an exon, minigene assay showed exon 4 skipping resulting in a PTC, but no quantification of aberrant transcript expression was performed. Over expression of the variant in HEK293T cells showed comparable protein expression to WT, and NXT2 staining was present in SOX9-positive Sertoli cells in the patient’s testis. - Above article also refers to an individual described in PMID: 35013161 – 1x male individual with a de novo 42 kb large deletion on the X chromosome encompassing the entire NXT2 gene. Sources: Literature |
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| Mendeliome v0.12647 | SOX9 | Zornitza Stark Marked gene: SOX9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12647 | SOX9 | Zornitza Stark Gene: sox9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12647 | SOX9 | Zornitza Stark Phenotypes for gene: SOX9 were changed from to Campomelic dysplasia, MIM# 114290; Campomelic dysplasia, MONDO:0007251 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12646 | SOX9 | Zornitza Stark Publications for gene: SOX9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12645 | SOX9 | Zornitza Stark edited their review of gene: SOX9: Changed publications: 20301724 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12645 | SOX9 | Zornitza Stark Mode of inheritance for gene: SOX9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12644 | SOX9 | Zornitza Stark reviewed gene: SOX9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Campomelic dysplasia, MIM# 114290, Campomelic dysplasia, MONDO:0007251; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | SOX9 |
Zornitza Stark gene: SOX9 was added gene: SOX9 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SOX9 was set to Unknown |
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