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| Hypogonadotropic hypogonadism (GMS) v2.5 | SOX10 | Catherine Snow Tag Q2_21_rating was removed from gene: SOX10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | SOX10 | Catherine Snow commented on gene: SOX10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.4 | SOX10 |
Catherine Snow Source Expert Review Green was added to SOX10. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hypogonadotropic hypogonadism (GMS) v1.28 | SOX10 | Ivone Leong Phenotypes for gene: SOX10 were changed from Waardenburg syndrome type 4C (OMIM 611584) to Waardenburg syndrome type 4C, OMIM:611584; Waardenburg syndrome, type 2E, with or without neurologic involvement, OMIM:611584; congenital hypogonadotropic hypogonadism, MONDO:0015770 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.27 | SOX10 | Ivone Leong Classified gene: SOX10 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.27 | SOX10 | Ivone Leong Added comment: Comment on list classification: This gene is associated with a phenotype in OMIM and Gene2Phenotype. There are >3 cases of SOX10 variants found in patients with Kallman syndrome. PMID: 33597923 and 33082981 describe 2 patients (Chinese and Japanese) with variants in SOX10 who has Waardenburg syndrome and Kallmann syndrome. Therefore, this gene should be Green on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.27 | SOX10 | Ivone Leong Gene: sox10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.26 | SOX10 | Ivone Leong Publications for gene: SOX10 were set to 23643381; 15004559; 30914325; 26228106; 24769923; 33082981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.25 | SOX10 | Ivone Leong Tag Q2_21_rating tag was added to gene: SOX10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.25 | SOX10 | Ivone Leong Added comment: Comment on publications: More publications (30914325; 26228106; 24769923; 33082981) showing SOX10 variants found in patients affected by Kallman syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.25 | SOX10 | Ivone Leong Publications for gene: SOX10 were set to 23643381; 15004559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.22 | SOX10 | Ivone Leong Publications for gene: SOX10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.15 | CCDC141 |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. PMID: 251920460 describes 2 affected siblings from a consanguineous family with anosmic HH, who had homozygous variant in FEZF1 (Amber gene on this panel) and also homozyous for variant in CCDC141. PMID: 28324054 describes the above case and also 3 new cases (all had normal sense of smell and HH). Family 2: compound het for CCDC141 and heterozygous for DMXL2 variant. Family 3: heterozygous for CCDC141 variant and heterozygous for variants in 3 other genes (NR5A2, FSHB - Green on HH panel, IGSF10). Family 4: affected patient was heterozygous for CCDC141 variant, which the father also carried but father was unaffected. PMID: 32520725 describes a large Chinese cohort with congenital HH looking at the contribution of CCDC141 to the disease. 12 probands had variants CCDC141 and 9 of these probands had variants in other HH-related genes (inluding PCSK1, ANOS1, PROKR2, AXL, SOX10, HS6ST1, PNPLA6 and FGFR1). The authors concluded that CCDC141 variants alone is not sufficient to cause HH. PMID: 27014940 talks about a ccdc141 knockdown mouse model reduces GnRH neuronal migration. After discussing with the Genomics England Clinical Team, it was decided that this gene should have an Amber rating as variants. Helen Brittain (Genomics England): "...variants in this gene may be seen as a risk allele (either with other known contributory genetic factors, or unexplained variable penetrance)." |
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| Hypogonadotropic hypogonadism (GMS) v1.8 | SOX10 | Zornitza Stark reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 23643381, 15004559; Phenotypes: PCWH syndrome (MIM#609136), Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584), Waardenburg syndrome, type 4C (MIM#613266); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | SOX10 | Simon Thomas reviewed gene: SOX10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | SOX10 | Ivone Leong Source Wessex and West Midlands GLH was added to SOX10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | SOX10 | Martina Owens reviewed gene: SOX10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | SOX10 | Ivone Leong Added phenotypes Waardenburg syndrome type 4C (OMIM 611584) for gene: SOX10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.3 | SOX10 |
Ivone Leong gene: SOX10 was added gene: SOX10 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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