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Prepair 1000+

Gene: TMEM107

Green List (high evidence)

TMEM107 (transmembrane protein 107)
EnsemblGeneIds (GRCh38): ENSG00000179029
EnsemblGeneIds (GRCh37): ENSG00000179029
OMIM: 616183, Gene2Phenotype
TMEM107 is in 9 panels

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

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
Created: 2 Jan 2025, 6:24 a.m. | Last Modified: 2 Jan 2025, 6:24 a.m.
Panel Version: 1.984

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Orofaciodigital syndrome XVI, MIM #617563

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Orofaciodigital syndrome XVI, MIM#617563
OMIM
616183
Clinvar variants
Variants in TMEM107
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem107 has been classified as Green List (High Evidence).

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMEM107 were changed from Orofaciodigital syndrome XVI, 617563 (3), Autosomal recessive to Orofaciodigital syndrome XVI, MIM#617563

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TMEM107 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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