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Monogenic short stature v1.36 VPS50 Ida Ertmanska Tag curated_removed tag was added to gene: VPS50.
Monogenic short stature v1.36 VPS50 Ida Ertmanska Tag Q2_26_promote_green was removed from gene: VPS50.
Monogenic short stature v1.36 VPS50 Ida Ertmanska Classified gene: VPS50 as No list
Monogenic short stature v1.36 VPS50 Ida Ertmanska Gene: vps50 has been removed from the panel.
Monogenic short stature v1.35 VPS50 Ida Ertmanska Classified gene: VPS50 as Red List (low evidence)
Monogenic short stature v1.35 VPS50 Ida Ertmanska Added comment: Comment on list classification: As per current Test Directory criteria for this panel, presence of microcephaly in an individual excludes R453 Monogenic short stature testing. While there are 3 individuals reported with short stature and biallelic VPS50 variants, including two individuals with more than -2 Z, all 3 had microcephaly as well. Hence, this gene should be Grey and tagged curated_removed on this panel.
Monogenic short stature v1.35 VPS50 Ida Ertmanska Gene: vps50 has been classified as Red List (Low Evidence).
Monogenic short stature v1.34 VPS50 Ida Ertmanska edited their review of gene: VPS50: Changed rating: RED
Monogenic short stature v1.34 VPS50 Ida Ertmanska changed review comment from: 3rd case:
PMID: 38876772 Hecher et al., 2024
18-month-old female patient, Vietnamese/German, with biallelic VPS50 variants: a paternally inherited heterozygous nonsense c.13A>T; p.(Lys5*) variant, and a ~428 kb complex structural variation with VPS50 deletion chr7:g. (88798914_88969132del; 88969133_93232032inv; 93232033_93659940del), maternally inherited. The structural variant also affects the following genes: CALCR, GNGT1, HEPACAM2, ZNF804B - none of these are currently OMIM morbid for a mendelian disorder. Mother was unaffected.
Patient had severe ID / developmental delay, hypotonia, severe sensorineural hearing impairment, intermittent nystagmus, seizures (onset at 12 months), neonatal low GGT cholestasis, failure to thrive. Microcephaly was progressive (OFC at birth = 34.5 cm, Z score +0.29; OFC at 12 months = 42cm, Z score = -3.25). Brain MRI at 6mo and 17mo showed CC hypoplasia without other anomalies.
Interestingly, VPS50 mRNA in fibroblasts of the patient was similar to control levels, but VPS50 protein was absent - hinting at instability of the EARP complex.

VPS50 is associated with AR Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, OMIM:619685 (OMIM accessed 22nd Apr 2026).; to: 3rd case:
PMID: 38876772 Hecher et al., 2024
18-month-old female patient, Vietnamese/German, with biallelic VPS50 variants: a paternally inherited heterozygous nonsense c.13A>T; p.(Lys5*) variant, and a ~428 kb complex structural variation with VPS50 deletion chr7:g. (88798914_88969132del; 88969133_93232032inv; 93232033_93659940del), maternally inherited. The structural variant also affects the following genes: CALCR, GNGT1, HEPACAM2, ZNF804B - none of these are currently OMIM morbid for a mendelian disorder. Mother was unaffected.
Patient had severe ID / developmental delay, hypotonia, severe sensorineural hearing impairment, intermittent nystagmus, seizures (onset at 12 months), neonatal low GGT cholestasis, failure to thrive. Microcephaly was progressive (OFC at birth = 34.5 cm, Z score +0.29; OFC at 12 months = 42cm, Z score = -3.25). Her height was 77cm at 18 months (-1.69 Z). Brain MRI at 6mo and 17mo showed CC hypoplasia without other anomalies.
Interestingly, VPS50 mRNA in fibroblasts of the patient was similar to control levels, but VPS50 protein was absent - hinting at instability of the EARP complex.

VPS50 is associated with AR Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, OMIM:619685 (OMIM accessed 22nd Apr 2026).
Monogenic short stature v1.34 VPS50 Ida Ertmanska Deleted their comment
Monogenic short stature v1.34 VPS50 Ida Ertmanska Publications for gene: VPS50 were set to 34037727
Monogenic short stature v1.33 VPS50 Ida Ertmanska Phenotypes for gene: VPS50 were changed from Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, OMIM:619685 to Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, OMIM:619685; neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, MONDO:0859216
Monogenic short stature v1.32 VPS50 Ida Ertmanska Tag watchlist was removed from gene: VPS50.
Tag Q2_26_promote_green tag was added to gene: VPS50.
Monogenic short stature v1.32 VPS50 Ida Ertmanska commented on gene: VPS50: Comment on list classification: There are now 3 unrelated individuals reported with biallelic VPS50 variants and a concordant phenotype including cholestasis, ID / DD, CC hypoplasia on MRI, seizures, and failure to thrive. Hence, this gene can be promoted to Green at the next update.
Monogenic short stature v1.32 VPS50 Ida Ertmanska reviewed gene: VPS50: Rating: GREEN; Mode of pathogenicity: None; Publications: 38876772; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, OMIM:619685, neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, MONDO:0859216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic short stature v0.85 VPS50 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.85 VPS50 Arina Puzriakova gene: VPS50 was added
gene: VPS50 was added to Monogenic short stature. Sources: Expert Review Amber,Literature
watchlist tags were added to gene: VPS50.
Mode of inheritance for gene: VPS50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS50 were set to 34037727
Phenotypes for gene: VPS50 were set to Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, OMIM:619685
Penetrance for gene: VPS50 were set to Complete