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Repeat Disorders

STR: SPD1

Green List (high evidence)
Chromosome: 2
GRCh37 Position: 176957787-176957831
GRCh38 Position: 176093059-176093103
Repeated Sequence: GCG
Normal Number of Repeats: < 15
Pathogenic Number of Repeats: = or > 24

HOXD13 (homeobox D13)
EnsemblGeneIds (GRCh38): ENSG00000128714
EnsemblGeneIds (GRCh37): ENSG00000128714
OMIM: 142989, Gene2Phenotype
HOXD13 is in 0 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

NM_000523.4(HOXD13):c.212_213GCG[X]
Mechanism of disease is polyAlanine tract associated with dominant-negative effect
Normal repeat number: 15
Pathogenic repeat number: 24
Truncation of repeat also reported
Sources: Expert list
Created: 28 Aug 2021, 10:53 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Synpolydactyly 1 MIM#186000

Publications

Clinically Relevant

Interruptions in the repeated sequence are reported as part of standard diagnostic practise

Created: 28 Aug 2021, 10:53 a.m.

Panel version: 0.92

Details

Name
SPD1
Chromosome
2
GRCh37 Coordinates
176957787-176957831
GRCh38 Coordinates
176093059-176093103
Repeated Sequence
GCG
Normal Number of Repeats: <
15
Pathogenic Number of Repeats: = or >
24
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Synpolydactyly 1 MIM#186000
Tags
paediatric-onset
OMIM
142989
Clinvar variants
Variants in HOXD13
Penetrance
None
Publications

History Filter Activity

10 Sep 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag paediatric-onset tag was added to STR: SPD1.

28 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: spd1 has been classified as Green List (High Evidence).

28 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: spd1 has been classified as Green List (High Evidence).

28 Aug 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

STR: SPD1 was added STR: SPD1 was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: SPD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: SPD1 were set to 8817328; 33811808; 33533119 Phenotypes for STR: SPD1 were set to Synpolydactyly 1 MIM#186000 Review for STR: SPD1 was set to GREEN STR: SPD1 was marked as clinically relevant