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| Paediatric disorders - additional genes v8.19 | PPP2R3C | Ida Ertmanska Tag Q4_26_promote_green tag was added to gene: PPP2R3C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v8.19 | PPP2R3C | Ida Ertmanska Classified gene: PPP2R3C as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v8.19 | PPP2R3C | Ida Ertmanska Added comment: Comment on list classification: There are now several unrelated probands reported in literature with biallelic PPP2R3C variants and syndromic gonadal dysgenesis. Common features included facial dysmorphism, mild developmental delay, short stature and retardation of bone age. More variable features included hearing and vision impairment, myopathy, renal agenesis. Based on the early-onset syndromic presentation, PPP2R3C should be rated Green on Paediatric disorders - additional genes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v8.19 | PPP2R3C | Ida Ertmanska Gene: ppp2r3c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v8.18 | PPP2R3C | Ida Ertmanska edited their review of gene: PPP2R3C: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v8.18 | PPP2R3C |
Ida Ertmanska changed review comment from: PMID: 35812758 Zhang et al., 2022 24yo Chinese female (46, XY) proband with complete gonadal dysgenesis (CGD) and biallelic PPP2R3C variants: p.F229del & p.G417E. Seq method: WES. She presented with poor development of secondary sexual characteristics and primary amenorrhea. She also had short stature (148 cm tall (-3SD) at 18 years old) and received growth hormone therapy. Literature review from the paper: "Thirteen 46, XY DSD patients had been reported in three articles previously (Guran et al., 2019; Cicek et al., 2021; Altunoglu et al., 2022). All the patients came from consanguineous marriages and had homozygous PPP2R3C variants. Also, three 46, XX DSD patients presented with complete gonadal dysgenesis, recognizable facial features, and multiple extragenital malformations." Other features reported: facial dysmorphism (16/16), retardation of bone age (15/ 16), delayed development of the nervous system / mild neuromotor delay (14/16), and more variable features like SNHL, renal agenesis, myopathy, impaired vision. PMID: 34750818 - 8 patients with gonadal dysgenesis from 4 unrelated families of Turkish and Indian descent, with 3 different homozygous PPP2R3C variants and gonadal dysgenesis. Short stature was a consistent finding, though no severity given. Growth hormone deficiency was reported in 1 family. PMID: 34714774 - 4 patients from 3 unrelated Turkish families with the same homozygous p.L193S variant in PPP2R3C - one 46,XX girl with primary gonadal insufficiency, two girls with 46,XY complete GD, and one undervirilised boy with 46,XY partial GD. P1 was 110.2 cm tall (−4.1 SDS) at 9 years. P2 at 10 yrs was 133.7 cm tall (−1.13 SDS). PMID: 30893644 - Four Turkish female probands from four unrelated families with 46, XY complete gonadal dysgenesis and three different homozygous PPP2R3C variants. P1 was 87.5 cm tall (50–75%) at 2 yo. P2 was 112.6 cm tall (<3%) at 9yo. P3 - her height was between -2.5 and −3 SDS before estradiol therapy, and was was at a final height of 161 cm tall (25–50%) at 19 yrs. P4 - at 1 year old, she was 67 cm tall (<3%). PPP2R3C is associated with AR Myoectodermal gonadal dysgenesis syndrome, OMIM:618419 (OMIM accessed 26th Oct 2026). Sources: Literature; to: PMID: 35812758 Zhang et al., 2022 24yo Chinese female (46, XY) proband with complete gonadal dysgenesis (CGD) and biallelic PPP2R3C variants: p.F229del & p.G417E. Seq method: WES. She presented with poor development of secondary sexual characteristics and primary amenorrhea. She also had short stature (148 cm tall (-3SD) at 18 years old) and received growth hormone therapy. Literature review from the paper: "Thirteen 46, XY DSD patients had been reported in three articles previously (Guran et al., 2019; Cicek et al., 2021; Altunoglu et al., 2022). All the patients came from consanguineous marriages and had homozygous PPP2R3C variants. Eleven out of thirteen 46, XY DSD patients presented with complete gonadal dysgenesis, complete female vulva with hypoplastic labium major, and hypoplastic uterus. Sex hormone levels were compatible with complete gonadal dysgenesis. One patient presented with partial testicular dysgenesis, and he had ambiguous genitalia, micropenis, and left cryptorchidism. Also, three 46, XX DSD patients presented with complete gonadal dysgenesis, recognizable facial features, and multiple extragenital malformations." Other features reported: facial dysmorphism (16/16), retardation of bone age (15/ 16), delayed development of the nervous system / mild neuromotor delay (14/16), and more variable features like SNHL, renal agenesis, myopathy, impaired vision. Intellect was mostly not reported, or noted to be 'low normal' - borderline ID. PMID: 34750818 - 8 patients with gonadal dysgenesis from 4 unrelated families of Turkish and Indian descent, with 3 different homozygous PPP2R3C variants PMID: 34714774 - 4 patients from 3 unrelated Turkish families with the same homozygous p.L193S variant in PPP2R3C - one 46,XX girl with primary gonadal insufficiency, two girls with 46,XY complete GD, and one undervirilised boy with 46,XY partial GD. PMID: 30893644 - Four Turkish female probands from four unrelated families with 46, XY complete gonadal dysgenesis and three different homozygous PPP2R3C variants. PPP2R3C is associated with AR Myoectodermal gonadal dysgenesis syndrome, OMIM:618419 (OMIM accessed 26th Oct 2026). |
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| Paediatric disorders - additional genes v8.18 | PPP2R3C |
Ida Ertmanska gene: PPP2R3C was added gene: PPP2R3C was added to Paediatric disorders - additional genes. Sources: Literature Mode of inheritance for gene: PPP2R3C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPP2R3C were set to 30893644; 34714774; 34750818; 35812758 Phenotypes for gene: PPP2R3C were set to Myoectodermal gonadal dysgenesis syndrome, OMIM:618419; gonadal dysgenesis, MONDO:0001967 Review for gene: PPP2R3C was set to AMBER Added comment: PMID: 35812758 Zhang et al., 2022 24yo Chinese female (46, XY) proband with complete gonadal dysgenesis (CGD) and biallelic PPP2R3C variants: p.F229del & p.G417E. Seq method: WES. She presented with poor development of secondary sexual characteristics and primary amenorrhea. She also had short stature (148 cm tall (-3SD) at 18 years old) and received growth hormone therapy. Literature review from the paper: "Thirteen 46, XY DSD patients had been reported in three articles previously (Guran et al., 2019; Cicek et al., 2021; Altunoglu et al., 2022). All the patients came from consanguineous marriages and had homozygous PPP2R3C variants. Also, three 46, XX DSD patients presented with complete gonadal dysgenesis, recognizable facial features, and multiple extragenital malformations." Other features reported: facial dysmorphism (16/16), retardation of bone age (15/ 16), delayed development of the nervous system / mild neuromotor delay (14/16), and more variable features like SNHL, renal agenesis, myopathy, impaired vision. PMID: 34750818 - 8 patients with gonadal dysgenesis from 4 unrelated families of Turkish and Indian descent, with 3 different homozygous PPP2R3C variants and gonadal dysgenesis. Short stature was a consistent finding, though no severity given. Growth hormone deficiency was reported in 1 family. PMID: 34714774 - 4 patients from 3 unrelated Turkish families with the same homozygous p.L193S variant in PPP2R3C - one 46,XX girl with primary gonadal insufficiency, two girls with 46,XY complete GD, and one undervirilised boy with 46,XY partial GD. P1 was 110.2 cm tall (−4.1 SDS) at 9 years. P2 at 10 yrs was 133.7 cm tall (−1.13 SDS). PMID: 30893644 - Four Turkish female probands from four unrelated families with 46, XY complete gonadal dysgenesis and three different homozygous PPP2R3C variants. P1 was 87.5 cm tall (50–75%) at 2 yo. P2 was 112.6 cm tall (<3%) at 9yo. P3 - her height was between -2.5 and −3 SDS before estradiol therapy, and was was at a final height of 161 cm tall (25–50%) at 19 yrs. P4 - at 1 year old, she was 67 cm tall (<3%). PPP2R3C is associated with AR Myoectodermal gonadal dysgenesis syndrome, OMIM:618419 (OMIM accessed 26th Oct 2026). Sources: Literature |
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