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| Prepair 1000+ v1.1598 | TMEM107 |
Kate Scarff changed review comment from: Ciliopathy 26518474: one patient with bilateral postaxial polydactyly in hands and feet, multiple tongue cysts, and several facial dysmorphic features including frontal narrowing, short palpebral fissures, flat nasal bridge, retrognathia, and low-set ears. Mutation was del Phe106. 26595381: one patient with OFD had homozygous missense variant, another patient with Joubert syndrome comp het for del Phe106 and a frameshift deletion. 26123494: Meckel–Gruber syndrome cases in this paper were defined on the basis of occipital encephalocele, perinatal lethality and either polydactyly or polycystic kidneys. Two individuals had a homozygous p.Ser92Cysfs*7 variant were identified. Unclear if we should also be reporting other phenotypes: ?Joubert syndrome 29/Meckel syndrome 13, MIM #617562; to: Ciliopathy 26518474: one patient with bilateral postaxial polydactyly in hands and feet, multiple tongue cysts, and several facial dysmorphic features including frontal narrowing, short palpebral fissures, flat nasal bridge, retrognathia, and low-set ears. Mutation was del Phe106. 26595381: one patient with OFD had homozygous missense variant, another patient with Joubert syndrome comp het for del Phe106 and a frameshift deletion. 26123494: Meckel–Gruber syndrome cases in this paper were defined on the basis of occipital encephalocele, perinatal lethality and either polydactyly or polycystic kidneys. Two individuals had a homozygous p.Ser92Cysfs*7 variant identified. OMIM denotes with a ? that for Joubert syndrome 29, MIM #617562, it indicates that the relationship between the phenotype and gene is provisional. |
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| Prepair 1000+ v1.1598 | TMEM107 | Kate Scarff edited their review of gene: TMEM107: Changed phenotypes: Orofaciodigital syndrome XVI, MIM #617563, Meckel syndrome 13, MIM #617562, ?Joubert syndrome 29, MIM #617562 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1168 | TMEM107 | Zornitza Stark Marked gene: TMEM107 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1168 | TMEM107 | Zornitza Stark Gene: tmem107 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1168 | TMEM107 | Zornitza Stark Phenotypes for gene: TMEM107 were changed from Orofaciodigital syndrome XVI, 617563 (3), Autosomal recessive to Orofaciodigital syndrome XVI, MIM#617563 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1167 | TMEM107 | Zornitza Stark Publications for gene: TMEM107 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.984 | TMEM107 | Kate Scarff reviewed gene: TMEM107: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26518474, 26595381, 26123494; Phenotypes: Orofaciodigital syndrome XVI, MIM #617563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | TMEM107 |
Zornitza Stark gene: TMEM107 was added gene: TMEM107 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM107 were set to Orofaciodigital syndrome XVI, 617563 (3), Autosomal recessive |
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