1. Genes and Genomic Entities
  2. TBC1D7

TBC1D7

TBC1 domain family member 7
OMIM: 612655, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red TBC1D7 in Hydrocephalus


Level 2: Neurology
Version 5.12
Latest signed off version: v5.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Literature
Phenotypes
  • Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000
Red TBC1D7 in Segmental overgrowth disorders - Deep sequencing


Level 2: Dermatology
Version 4.5
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000
Green TBC1D7 in Intellectual disability


Level 2: Developmental disorders
Version 9.325
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000
    Red TBC1D7 in Neurological segmental overgrowth


    Level 2: Neurology
    Version 3.3
    Latest signed off version: v3.0 (30 Oct 2024)

    Component of the following Super Panels:

  • Cerebral malformation

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000