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| Mendeliome v1.4747 | SPRY4 |
Lucy Spencer changed review comment from: PMID: 31200363 identified Ser259Phe (p.236 in gnomad, only 1 het) in an individual with HH. They also had a variant in IGSF10 but it was common in gnomad. No functional data PMID: 31781046 an individual with Kallman syndrome, identified Arg53Gln (p.30 in gnomad) which has over 80 hets and 2 homs in gnomad. PMID: 32389901 in an individual with Kallman syndrome identified Thr68Ser (p.45 in gnomad) which only has 3 hets in gnomad. this individual also had a variant in PLXNA1 which is also amber for DSD due to high population frequencies of reported variants, and the variant in this case has 79 hets in gnomad. PMID: 35316923 Only identified 2 common missense variants in patients with HH p.Lys177Arg and p.Ser241Tyr So another 2 rare missense variants reported but no functional data available remains amber; to: PMID: 31200363 identified Ser259Phe (p.236 in gnomad, only 1 het) in an individual with HH. They also had a variant in IGSF10 but it was common in gnomad. No functional data PMID: 31781046 an individual with Kallman syndrome, identified Arg53Gln (p.30 in gnomad) which has over 80 hets and 2 homs in gnomad. PMID: 32389901 in an individual with Kallman syndrome identified Thr68Ser (p.45 in gnomad) which only has 3 hets in gnomad. this individual also had a variant in PLXNA1 which is also amber for DSD due to high population frequencies of reported variants, and the variant in this case has 79 hets in gnomad. PMID: 35316923 Only identified 2 common missense variants in patients with HH p.Lys177Arg and p.Ser241Tyr So another 2 rare missense variants reported but no functional data available REMAINS AMBER |
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| Mendeliome v1.4352 | IGSF10 | Zornitza Stark Publications for gene: IGSF10 were set to 27137492; 31042289; 40700020 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4351 | IGSF10 | Zornitza Stark Mode of inheritance for gene: IGSF10 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4350 | IGSF10 |
Zornitza Stark edited their review of gene: IGSF10: Added comment: PMID 31200363: two individuals from unrelated families with bi-allelic variants and hypogonadotropic hypogonadism. PMID 33208564: single individual with mono-allelic LoF variant and hypogonadotropic hypogonadism. Still a mixture of MOIs reported, little supportive data, some of the variants postulated to be associated with dominant disease have high pop frequencies.; Changed publications: 27137492, 31042289, 40700020, 31200363, 33208564 |
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| Mendeliome v1.2899 | IGSF10 | Zornitza Stark Phenotypes for gene: IGSF10 were changed from delayed puberty; hypogonadotropic hypogonadism; primary ovary insufficiency to Disorder of sex differentiation, MONDO:0002145, IGSF10-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2898 | IGSF10 | Zornitza Stark Publications for gene: IGSF10 were set to 27137492; 31042289 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2897 | IGSF10 | Zornitza Stark Mode of inheritance for gene: IGSF10 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2896 | IGSF10 | Zornitza Stark reviewed gene: IGSF10: Rating: AMBER; Mode of pathogenicity: None; Publications: 27137492, 31042289, 40700020; Phenotypes: Disorder of sex differentiation, MONDO:0002145, IGSF10-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4725 | IGSF10 | Bryony Thompson Marked gene: IGSF10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4725 | IGSF10 | Bryony Thompson Gene: igsf10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4725 | IGSF10 | Bryony Thompson Classified gene: IGSF10 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4725 | IGSF10 | Bryony Thompson Gene: igsf10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4724 | IGSF10 |
Bryony Thompson gene: IGSF10 was added gene: IGSF10 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: IGSF10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: IGSF10 were set to 27137492; 31042289 Phenotypes for gene: IGSF10 were set to delayed puberty; hypogonadotropic hypogonadism; primary ovary insufficiency Review for gene: IGSF10 was set to AMBER Added comment: PMID: 27137492 - 4 Finnish families segregating p.Glu161Lys, but Finnish MAF in ExAC is 2%. Another six additional families with a possible missense, but variants are seen in ExAC suggesting incomplete penetrance. Supporting in vitro functional assays and zebrafish model. PMID: 31042289 - 2 unrelated consanguineous families with homozygous variants and family with a heterozygous frameshift and apparent incomplete penetrance. Sources: Literature |
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