| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.4822 | OLA1 | Zornitza Stark Marked gene: OLA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4822 | OLA1 | Zornitza Stark Gene: ola1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4822 | OLA1 | Zornitza Stark Phenotypes for gene: OLA1 were changed from Neurodevelopmental disorder with hypermobility to Neurodevelopmental disorder, MONDO:0700092, OLA1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4821 | OLA1 | Zornitza Stark Classified gene: OLA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4821 | OLA1 | Zornitza Stark Gene: ola1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4820 | OLA1 | Zornitza Stark reviewed gene: OLA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, OLA1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4818 | OLA1 |
Fahaz Nazer gene: OLA1 was added gene: OLA1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: OLA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OLA1 were set to 41887223 Phenotypes for gene: OLA1 were set to Neurodevelopmental disorder with hypermobility Review for gene: OLA1 was set to GREEN Added comment: Autosomal recessive NDD with hypermobility 14 affected individuals from 9 unrelated families 6 individuals had significant microcephaly. All have ID. Variant in Family 1: Arg143* - proven to cause complete loss of OLA1 protein on Western Blot. Ola1 null mice are small for gestational age, exhibit developmental delay, and have high perinatal lethality Functional evidence (C.Elegans model): Assessed 2 independent LOF alleles. Notable behavioral effects (reduced bending, and response to touch) GABAergic motor neurons shows abnormal axonal architecture and projection defects Sources: Literature |
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| Mendeliome v0.1990 | POLA1 | Zornitza Stark Marked gene: POLA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1990 | POLA1 | Zornitza Stark Gene: pola1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1990 | POLA1 | Zornitza Stark Phenotypes for gene: POLA1 were changed from to Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM# 301220; Van Esch-O'Driscoll syndrome OMIM# 301030 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1989 | POLA1 | Zornitza Stark Publications for gene: POLA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1988 | POLA1 | Zornitza Stark Mode of inheritance for gene: POLA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1987 | POLA1 | Zornitza Stark Tag deep intronic tag was added to gene: POLA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1987 | POLA1 | Zornitza Stark reviewed gene: POLA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27019227, 31006512; Phenotypes: Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM# 301220, Van Esch-O'Driscoll syndrome OMIM# 301030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | POLA1 |
Zornitza Stark gene: POLA1 was added gene: POLA1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POLA1 was set to Unknown |
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